Genomics England

Other rare neuromuscular disorders (Version: )

Relevant disorders: Neuromuscular disorders, R381

This panel contains these 7 panels:

Rhabdomyolysis and metabolic muscle disorders
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Congenital myopathy
Distal myopathies
Congenital myaesthenic syndrome
Paediatric motor neuronopathies
Congenital muscular dystrophy

Signed off date: 4 Oct 2024

Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off

229 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABHD5 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTA1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACTA1 Distal myopathies	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ACTN2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ADSSL1 Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ADSSL1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	AGL Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGRN Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG14 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG2 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AR_CAG Congenital myopathy STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	AR_CAG Distal myopathies STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	AR_CAG Paediatric motor neuronopathies STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	ASAH1 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASCC1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ASCC3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GAT1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAG3 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BAG3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BET1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BICD2 Paediatric motor neuronopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BIN1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	CACNA1S Rhabdomyolysis and metabolic muscle disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1S Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CAPN3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_23_MOI
Green	CAV3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CAV3 Rhabdomyolysis and metabolic muscle disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAVIN1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFL2 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHAT Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHCHD10 Paediatric motor neuronopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHKB Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA1 Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CHRNB1 Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	deletions
Green	CHRND Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CHRNE Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNG Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNBP_CCTG Distal myopathies STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	COL12A1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL12A1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL13A1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	COL13A1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	Other	treatable
Green	COL25A1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	COL6A1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COLQ Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	COQ4 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A2 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2 Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRYAB Distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYAB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	DAG1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DES Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DES Distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DGUOK Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMD Rhabdomyolysis and metabolic muscle disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMD Congenital muscular dystrophy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMPK_CTG Congenital myopathy STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMPK_CTG Congenital muscular dystrophy STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DNAJB4 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DNAJB6 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAJB6 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNM2 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense, watchlist_moi
Green	DOK7 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOK7 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOK7 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	DOLK Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DTNA Congenital muscular dystrophy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	DYNC1H1 Paediatric motor neuronopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYSF Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYSF Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYSF Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECEL1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EMD Congenital muscular dystrophy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	ENO3 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDX2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FHL1 Congenital muscular dystrophy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FHL1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FHL1 Distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FKBP14 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	structural-variant
Green	FKTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLNC Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FLNC Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FXR1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GFPT1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GGPS1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GOLGA2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GOSR2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYG1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACD1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHB Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPA2B1 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPA2B1 Congenital muscular dystrophy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPDL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HSPB1 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HSPB8 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IGHMBP2 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	INPP5K Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37404-Loss Paediatric motor neuronopathies 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss Paediatric motor neuronopathies 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss Congenital myopathy 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss Congenital myopathy 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss Paediatric motor neuronopathies 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss Congenital myopathy 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss Paediatric motor neuronopathies 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss Paediatric motor neuronopathies 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCU Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic
Green	ISPD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ISPD Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ITGA7 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAG2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KBTBD13 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	KLHL40 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL41 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KY Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMP2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LAMP2 Rhabdomyolysis and metabolic muscle disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LARGE1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LDB3 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LDHA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LETM1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMOD3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP4 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAP3K20 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MATR3 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEGF10 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLIP Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLIP Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q1_24_MOI
Green	MT-CO1 Rhabdomyolysis and metabolic muscle disorders	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO2 Rhabdomyolysis and metabolic muscle disorders	MITOCHONDRIAL	N/A	gene-checked
Green	MTM1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MTM1 Congenital myopathy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MUSK Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	MYBPC1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH2 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH3 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH7 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH7 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_22_MOI
Green	MYH7 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYL1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYL2 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYMK Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO18B Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO9A Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYOD1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYOT Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYOT Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYPN Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEB Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	NEB Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OBSCN Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORAI1 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	ORAI1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX7 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAM2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGK1 Rhabdomyolysis and metabolic muscle disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGM1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHKA1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKA1 Rhabdomyolysis and metabolic muscle disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PIEZO2 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PLEC Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	PLEC Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLEC Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POGLUT1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLG2 Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMK Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKAG2 Rhabdomyolysis and metabolic muscle disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PYGM Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGM Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYROXD1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PYROXD1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAPSN Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBCK1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RYR1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	pharmacogenetics, treatable
Green	RYR1 Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RYR1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RYR3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCG Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC18A3 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC22A5 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A4 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC52A2 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	treatable
Green	SLC52A3 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SLC5A7 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMN1 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	cnv, gene-therapy-trial
Green	SMPX Distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SPEG Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTBN4 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SQSTM1 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	STAC3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIM1 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	STIM1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SUCLA2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SYT2 Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TAMM41 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANGO2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCAP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIA1 Distal myopathies	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	TK2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM5 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TNNC2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNI2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNT1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TNNT3 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNPO3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TOR1AIP1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPM2 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TPM3 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC11 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC11 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRDN Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM32 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP4 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP4 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPV4 Paediatric motor neuronopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSFM Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN Distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TTN Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	TYMP Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBA1 Paediatric motor neuronopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	UNC45B Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VAMP1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VCP Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VCP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VMA21 Congenital myopathy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	VMA21 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	VRK1 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZC4H2 Congenital myopathy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A

Other rare neuromuscular disorders (Version: 23.2623.721.219.112.15.43)

Other rare neuromuscular disorders (Version: )