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Prepair 1000+

Gene: NDUFAF6

Green List (high 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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Progressive neurodegenerative condition presenting in infancy, childhood or adolescence. Neurologic features include psychomotor delay or regression, hypotonia, dystonia, ataxia, spasticity, seizures and brainstem dysfunction. At least 15 individuals reported.

PMID: 27466185 - report a homozygous intronic mutation in the NDUFAF6 gene - causing alternate phenotype - Fanconi renotubular syndrome 5 MIM#618913.
Created: 2 Dec 2024, 3:54 a.m. | Last Modified: 2 Dec 2024, 3:54 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome MONDO:0009723; Mitochondrial complex I deficiency, nuclear type 17 MIM#618239

Publications

Created: 2 Dec 2024, 3:54 a.m.
Last Modified: 2 Dec 2024, 3:54 a.m.
Panel version: 1.633

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome MONDO:0009723
  • Mitochondrial complex I deficiency, nuclear type 17 MIM#618239
OMIM
612392
Clinvar variants
Variants in NDUFAF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf6 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFAF6 were changed from Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) to Leigh syndrome MONDO:0009723; Mitochondrial complex I deficiency, nuclear type 17 MIM#618239

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFAF6 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFAF6 was added gene: NDUFAF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)