Genomics England

Relevant disorders: R316

Signed off date: 17 Feb 2020

Panel types: GMS Rare Disease, GMS signed-off

24 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	BOLA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECHS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLRX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LONP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFU1	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	PDHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A