Genomics England

Cerebral malformation (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: Cerebral malformations, R87

This panel contains these 3 panels:

Malformations of cortical development
Neurological segmental overgrowth
Holoprosencephaly - NOT chromosomal

Signed off date: 7 Aug 2024

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

See this panel in PanelApp

126 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 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	AKT3 Neurological segmental overgrowth	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	CASP2 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	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	COL4A1 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Holoprosencephaly - NOT chromosomal	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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	HECTD4 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
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	ISCA-46743-Loss Holoprosencephaly - NOT chromosomal Xq25 region (includes STAG2) Loss region	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	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 Neurological segmental overgrowth	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	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	RAC3 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	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	SLC35A2 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	mosaicism, somatic
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: 15.313.211.210.18.25.17)

Cerebral malformation (Version: )