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  2. Renal Tubulopathies and related disorders
  3. NDUFAF6
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Renal Tubulopathies and related disorders

Gene: NDUFAF6

Amber List (moderate evidence)
NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6)
EnsemblGeneIds (GRCh38): ENSG00000156170
EnsemblGeneIds (GRCh37): ENSG00000156170
OMIM: 612392, Gene2Phenotype
NDUFAF6 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

NDUFAF6 is associated with mitochondrial disease. This is a specific phenotype observed in individuals from Acadian descent characterised by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. Founder homozygous intronic variant.
Sources: Expert list
Created: 17 Jun 2020, 1:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi renotubular syndrome 5, MIM# 618913

Publications

Created: 17 Jun 2020, 1:11 a.m.

Panel version: Imported from Renal Tubulopathies_KidGen panel version 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Expert Review Amber
  • Expert list
Phenotypes
  • Fanconi renotubular syndrome 5, MIM# 618913
OMIM
612392
Clinvar variants
Variants in NDUFAF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFAF6 was added gene: NDUFAF6 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF6 were set to 27466185 Phenotypes for gene: NDUFAF6 were set to Fanconi renotubular syndrome 5, MIM# 618913