Genomics England

Relevant disorders: R356

Signed off date: 1 May 2024

Panel types: GMS Rare Disease, GMS signed-off

20 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	APOPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	COA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX20	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX4I1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX7B	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	LRPPRC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SQOR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SURF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TACO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A