Genomics England

Cerebral malformations (Version: )

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

Relevant disorders: Cerebral malformation, R87

This panel contains these 3 panels:

Malformations of cortical development
Neurological segmental overgrowth
Holoprosencephaly

Signed off date: 4 Mar 2020

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

See this panel in PanelApp

79 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	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	B3GALNT2 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	CDK13 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDON Holoprosencephaly	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSNK2A1 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DAG1 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	DHCR7 Holoprosencephaly	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DISP1 Holoprosencephaly	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	EMX2 Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGF8 Holoprosencephaly	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR1 Holoprosencephaly	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	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	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	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	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	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7 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	PTCH1 Holoprosencephaly	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTEN Neurological segmental overgrowth	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	SHH Holoprosencephaly	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX3 Holoprosencephaly	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMO Malformations of cortical development	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	somatic, mosaicism
Green	TGIF1 Holoprosencephaly	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	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	WDR62 Malformations of cortical development	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZIC2 Holoprosencephaly	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A

Cerebral malformations (Version: 10.2410.18.25.17)

Cerebral malformations (Version: )