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Mitochondrial disease

Gene: NDUFAF5

Green List (high evidence)
NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5)
EnsemblGeneIds (GRCh38): ENSG00000101247
EnsemblGeneIds (GRCh37): ENSG00000101247
OMIM: 612360, Gene2Phenotype
NDUFAF5 is in 11 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:34797029 provides a summary of previously reported patients

>10 unrelated probands reported thus far
Created: 31 Jan 2022, 12:29 a.m. | Last Modified: 31 Jan 2022, 12:29 a.m.
Panel Version: 0.10812

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 3 MIM#618224

Publications

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

Created: 31 Jan 2022, 12:29 a.m.
Last Modified: 31 Jan 2022, 12:29 a.m.
Panel version: Imported from Mendeliome panel version 0.10812

Details

Mode of Inheritance
Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
OMIM
612360
Clinvar variants
Variants in NDUFAF5
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFAF5 was added gene: NDUFAF5 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFAF5 was set to Unknown