Genomics England

Intestinal failure or congenital diarrhoea (Version: )

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

Relevant disorders: R331, Intestinal failure

Signed off date: 30 Nov 2022

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

44 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ADAM17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANGPTL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARX	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	CCBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD55	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLMP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTLA4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DGAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EGFR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPCAM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLNA	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FOXP3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GUCY2C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ICOS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KMT2D	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LCT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRBA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTTP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO5B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEUROG3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCSK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLVAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFX6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAR1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SKIV2L	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SLC10A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC9A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPINT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STXBP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TERT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMPRSS15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC37	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC7A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XIAP	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A

Intestinal failure or congenital diarrhoea (Version: 3.02.01.2)

Intestinal failure or congenital diarrhoea (Version: )