Genomics England

Hydrocephalus (Version: )

Relevant disorders: Hydrocephalus, R86

Signed off date: 22 Mar 2023

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

78 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AKT3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism, somatic
Green	AP1S2	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	ARSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC88C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCND2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CENPF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DENND5A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EEF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EML1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	to_be_confirmed_NHSE, Q2_21_expert_review, Q2_21_rating
Green	FAM20C	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	FGFR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGFR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FKRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLVCR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GPSM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1	BIALLELIC, autosomal or pseudoautosomal	Other	to_be_confirmed_NHSE, Q4_21_rating, Q4_21_expert_review
Green	IDS	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	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIAA0586	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA1109	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIDINS220	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	L1CAM	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	LAMB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDZ	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYMK	BIALLELIC, autosomal or pseudoautosomal	N/A	to_be_confirmed_NHSE, Q4_21_expert_review, Q4_21_phenotype, Q4_21_rating
Green	NF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NSD1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OSTM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3CA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	somatic
Green	PIK3R2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PLG	BIALLELIC, autosomal or pseudoautosomal	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	POMK	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	PPP2R5D	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTCH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTEN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RNF125	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS6KA3	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	SKI	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SNX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRADA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUFU	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SUMF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D32	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TCF12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCIRG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM5	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TNFRSF11A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM71	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	TWIST1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	USP9X	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	WASHC5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZBTB20	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZIC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZIC3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A

Hydrocephalus (Version: 4.03.02.3)

Hydrocephalus (Version: )