Genomics England

Hypertrophic cardiomyopathy (Version: )

Relevant disorders: Hypertrophic cardiomyopathy - teen and adult, HCM, R131

Signed off date: 4 Oct 2024

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off

22 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTN2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ALPK3	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_24_NHS_review, Q3_24_MOI
Green	CACNA1C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CSRP3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FHL1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FHOD3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FLNC	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLA	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	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	MYBPC3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	watchlist_moi
Green	MYL2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYL3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PLN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKAG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNI3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TNNT2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TPM1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRIM63	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TTR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	treatable

Hypertrophic cardiomyopathy (Version: 4.164.134.84.03.02.11)

Hypertrophic cardiomyopathy (Version: )