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Intellectual disability

Gene: NDUFAF1

Amber List (moderate evidence)
NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000137806
EnsemblGeneIds (GRCh37): ENSG00000137806
OMIM: 606934, Gene2Phenotype
NDUFAF1 is in 10 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Additional case of ID required before inclusion of NDUFAF1 on a diagnostic panel (added to watchlist).
Created: 3 Aug 2020, 8:42 a.m. | Last Modified: 3 Aug 2020, 8:42 a.m.
Panel Version: 3.220
Associated with phenotype in OMIM, but not in G2P.

PMID: 17557076 (2007) - In a male patient with cardioencephalomyopathy, compound heterozygous variants (c.1001A>C and c.1140A>G) in the NDUFAF1 gene were identified. Developmental delay was noted at 15 months and at 20 years of age he had mild to moderate intellectual disability. Functional studies of patient cells showed depleted levels of NDUFAF1 (∼10% compared to control) and complex I due to impaired complex assembly. These defects were restored by complementing the deficiency with wild-type NDUFAF1.

PMID: 21931170 (2011) - In second hypertrophic cardiomyopathy patient, two heterozygous missense mutations (c.631C>T and c.733G>A) in the NDUFAF1 gene. The condition was fatal at 24 days of life, and therefore ID was not assessed. Functional analysis demonstrated reduction in NDUFAF1 protein levels in patient mitoplasts and ∼57% residual complex I activity in patient fibroblasts compared to controls.

PMID: 24963768 (2016) - Compound heterozygous variants (c.278A>G and c.247G>A) in the NDUFAF1 gene were detected in a 5-month-old male with leukodystrophy, which included psychomotor retardation. This patient died when he was 7-months-old. Segregation was confirmed, but functional studies were not performed.
Created: 3 Aug 2020, 8:39 a.m. | Last Modified: 3 Aug 2020, 8:39 a.m.
Panel Version: 3.219

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 11, 618234

Publications

Created: 3 Aug 2020, 8:39 a.m.
Last Modified: 3 Aug 2020, 8:39 a.m.
Panel version: 3.219

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families described, DD/ID part of the phenotype, specifically mentioned in two families, child in third family died in infancy from HOCM.
Sources: Expert list
Created: 5 Mar 2020, 2:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 11, MIM#618234

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Mar 2020, 2:25 a.m.

Panel version: 3.3

History Filter Activity

3 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ndufaf1 has been classified as Amber List (Moderate Evidence).

3 Aug 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: NDUFAF1.

5 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NDUFAF1 was added gene: NDUFAF1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF1 were set to 17557076; 21931170; 24963768 Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, MIM#618234 Review for gene: NDUFAF1 was set to GREEN gene: NDUFAF1 was marked as current diagnostic