Genomics England

Mitochondrial disorder with complex I deficiency (Version: )

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

Relevant disorders: R353

Signed off date: 30 Nov 2022

Panel types: GMS Rare Disease, GMS signed-off

30 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACAD9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA1	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	NDUFA10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF8	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NDUFB11	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	NDUFB3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUBPL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM126B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Mitochondrial disorder with complex I deficiency (Version: 3.02.01.2)

Mitochondrial disorder with complex I deficiency (Version: )