Genomics England

Cerebral malformation (Version: )

Relevant disorders: Cerebral malformations, R87

This panel contains these 3 panels:

Malformations of cortical development
Neurological segmental overgrowth
Holoprosencephaly - NOT chromosomal

Signed off date: 22 Mar 2023

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

120 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTB Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTG1 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ADGRG1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKT1 Neurological segmental overgrowth	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AKT3 Neurological segmental overgrowth	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AKT3 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	APC2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARF1 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARFGEF2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARX Malformations of cortical development	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 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A3 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	B3GALNT2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GAT1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASK Malformations of cortical development	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	CCND2 Neurological segmental overgrowth	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CCND2 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CDH2 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDK13 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDON Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CEP85L Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CNOT1 Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CRADD Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSNK2A1 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNNA2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCX Malformations of cortical development	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 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q1_23_MOI
Green	DHCR7 Holoprosencephaly - NOT chromosomal	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DISP1 Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	to_be_confirmed_NHSE, Q2_21_rating, gene-checked, Q2_21_expert_review
Green	DPYSL5 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYNC1H1 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EML1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGF8 Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR1 Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FKRP Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	Other	non-coding-known-pathogenic
Green	FLNA Malformations of cortical development	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	GLI2 Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GPSM2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN1 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2B Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	H3F3A Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	ISCA-37430-Loss Malformations of cortical development 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 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KATNB1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1BP Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF2A Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5C Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2D Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LAMA2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMB1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMC3 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MACF1 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MAP1B Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAPK8IP3 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MN1 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MTOR Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	somatic, mosaicism
Green	NDE1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEDD4L Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPRL2 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPRL3 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSRP1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCLN Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OSGEP Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAFAH1B1 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PEX1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6 Malformations of cortical development	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PI4KA Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIDD1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3CA Neurological segmental overgrowth	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PIK3CA Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PIK3R2 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PIK3R2 Neurological segmental overgrowth	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POMGNT1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1R12A Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTCH1 Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTEN Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTEN Neurological segmental overgrowth	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAB18 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP1 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAD21 Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RELN Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTTN Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN3A Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHH Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX3 Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMC1A Holoprosencephaly - NOT chromosomal	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	SMO Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	somatic, mosaicism
Green	SNAP29 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SOX11 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	STAG2 Holoprosencephaly - NOT chromosomal	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	TBC1D32 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TGIF1 Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM5 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMX2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP73 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBA1A Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB2A Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB2B Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB3 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBG1 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBGCP2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	VLDLR Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR62 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZIC2 Holoprosencephaly - NOT chromosomal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A

Cerebral malformation (Version: 10.18.25.17)

Cerebral malformation (Version: )