Intellectual disability update Jan 2018
Gene: NDUFAF3

NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000178057
EnsemblGeneIds (GRCh37): ENSG00000178057
OMIM: 612911, Gene2Phenotype
NDUFAF3 is in 12 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least 3 variants have been reported, however, they all present with an encephalopathic / raised lactate in early infancy with early mortality. Less pathogenic variants may result in prolonged survival and the manifestation of an ID phenotype
Created: 8 Mar 2018, 4:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency 252010

Publications

19463981

Created: 8 Mar 2018, 4:35 p.m.

Panel version: 0.475

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

Mitochondrial complex I deficiency 252010

OMIM

612911

Clinvar variants

Variants in NDUFAF3

Penetrance

None

Publications

19463981

Panels with this gene

History Filter Activity

8 Mar 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFAF3 was added to Intellectual disability update Jan 2018 panel. Sources: Literature

8 Mar 2018, Gel status: 1

Created