Genomics England

Malformations of cortical development (Version: )

This panel is a component of a whole genome sequencing super panel and is only requestable via the superpanel.

Signed off date: 3 Oct 2024

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

110 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ADGRG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKT3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	APC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARFGEF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARX	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	nucleotide-repeat-expansion
Green	ASPM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	B3GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASK	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	CASP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCND2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CDH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDK13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CEP85L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	COL3A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CRADD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSNK2A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNNA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCX	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	DEPDC5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DPYSL5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYNC1H1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EML1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN	BIALLELIC, autosomal or pseudoautosomal	Other	non-coding-known-pathogenic
Green	FLNA	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	x-linked-over-dominance
Green	GPSM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	H3F3A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	HECTD4	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	ISCA-37430-Loss 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISPD	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KATNB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1BP	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5C	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LAMA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MACF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MAP1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAPK8IP3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MTOR	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	somatic, mosaicism
Green	NDE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEDD4L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPRL2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPRL3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSRP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCLN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OSGEP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAFAH1B1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PEX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PI4KA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIDD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3CA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PIK3R2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POMGNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1R12A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTEN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAB18	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAC3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RELN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN3A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC35A2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	mosaicism, somatic
Green	SMO	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	somatic, mosaicism
Green	SNAP29	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SOX11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBC1D32	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM5	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP73	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBA1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBG1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBGCP2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	VLDLR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR62	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Malformations of cortical development (Version: 6.36.05.04.03.02.2)

Malformations of cortical development (Version: )