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Intellectual disability

Gene: NDUFAF1

No list

NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000137806
EnsemblGeneIds (GRCh37): ENSG00000137806
OMIM: 606934, Gene2Phenotype
NDUFAF1 is in 11 panels

1 review

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

History Filter Activity

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