Genomics England

Cholestasis (Version: )

Relevant disorders: R171, GT471, TP543

Signed off date: 12 Aug 2026

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

58 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABCB11	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ABCB4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	ABCC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKR1D1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMACR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP7B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8B1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	BAAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFTR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCDC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DGUOK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	HADHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNF1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HSD3B7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPV17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MVK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO5B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NOTCH2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NR1H4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_26_MOI
Green	PKHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSKH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TALDO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TJP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGT1A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC45A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USP53	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VIPAS39	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS33B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ZFYVE19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Cholestasis (Version: 4.174.03.02.01.21)

Cholestasis (Version: )