Likely inborn error of metabolism
Gene: NDUFAF8

NDUFAF8 (NADH:ubiquinone oxidoreductase complex assembly factor 8)
EnsemblGeneIds (GRCh38): ENSG00000224877
EnsemblGeneIds (GRCh37): ENSG00000224877
NDUFAF8 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Newcastle team are aware of 3 unrelated cases and functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65).
Created: 23 May 2019, 2:53 p.m.

Comment on phenotypes: No OMIM phenotype (23/05/2019).
Created: 23 May 2019, 2:52 p.m.

Created: 23 May 2019, 2:52 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.340

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
NHS GMS

Phenotypes

Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776

Tags

gene-checked

Clinvar variants

Variants in NDUFAF8

Penetrance

None

Publications

27499296

Panels with this gene

History Filter Activity

7 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: NDUFAF8.

8 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NDUFAF8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776

6 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: NDUFAF8 was added gene: NDUFAF8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF8 were set to 27499296 Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype

Likely inborn error of metabolism Gene: NDUFAF8