Genomics England

Relevant disorders: Mitochondrial liver disease, R317

Signed off date: 22 Mar 2023

Panel types: GMS Rare Disease, GMS signed-off

6 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	BCS1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DGUOK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPV17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	TRMU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWNK	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A