Genomics England

Severe microcephaly (Version: )

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

Relevant disorders: Primary Microcephaly - Microcephalic Dwarfism Spectrum, Severe microcephaly, R88

Signed off date: 7 Aug 2024

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

195 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ADARB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANKLE2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARF3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ARPC4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASPM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V0C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATRX	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	BLM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BPTF	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRCA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAMK2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	CCND2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDK5RAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPJ	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP135	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP152	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHAMP1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHKA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CKAP2L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREBBP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CSNK2A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTCF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNNB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTU2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIAPH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT3A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DOHH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DONSON	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DROSHA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked, locus-type-rna-micro
Green	DYNC1I2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYRK1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	deletions
Green	EFTUD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EIF2S3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EIF5A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ERCC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCB	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	FANCC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBRSL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	FOXG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GINS3	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	GMNN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	GPT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2E2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HDAC8	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	HHAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIST1H4C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	new-gene-name
Green	HMGB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	HPDL	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	IARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IER3IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1R	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	INTS11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37390-Loss 5p15 terminal (Cri du chat syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37406-Loss 16p13.3 region (includes CREBBP) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37425-Gain 5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37501-Loss 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46742-Loss 7p22.1 region (includes ACTB) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1BP	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KMT2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KNL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAGE3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	LARP7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMNB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	LMNB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MCPH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECP2	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	METTL5	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	MFSD2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MINPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MORC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MSMO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYCN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NAPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NARS	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	NBN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NCAPD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NCAPD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHEJ1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NIPBL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSRP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP107	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP188	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP214	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OSGEP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCDH12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHA1	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	PLK4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POC1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POGZ	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPFIBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPIL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PQBP1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRIM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRUNE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTPN23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUF60	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PUS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAD21	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAD50	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAD51	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RBBP8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNU4ATAC	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-rna-small-nuclear
Green	RPL10	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RTTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SLC1A4	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	SLC25A19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC38A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC9A6	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	SLX4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMARCA5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SMC1A	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	gene-duplication
Green	SMC3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPATA5L1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked, new-gene-name
Green	STAMBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SVBP	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNPO2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TOP3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP53RK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAIP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC6B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIO	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRMT10A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC5	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TTI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TUBGCP2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TUBGCP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBGCP6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBA5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UFC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UFM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC80	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VRK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR37	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	WDR4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR62	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR73	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WLS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YIPF5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZEB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZNF335	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q1_24_MOI, Q1_24_expert_review
Green	ZNF526	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Severe microcephaly (Version: 7.06.05.04.03.02.2)

Severe microcephaly (Version: )