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Intellectual disability syndromic and non-syndromic

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

Multiple unrelated families reported. Presentation in one family was with lactic acidosis in newborn period, and in another with regression in childhood. Limited phenotypic information for others. Unclear if and in what proportion of affected individuals ID is likely to be the main or presenting feature.
Created: 7 Dec 2019, 8:30 a.m. | Last Modified: 5 Mar 2020, 3:06 a.m.
Panel Version: 0.2386

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 17, MIM#618239

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • 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

5 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf6 has been classified as Amber List (Moderate Evidence).

7 Dec 2019, 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).

7 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFAF6 were changed from to Mitochondrial complex I deficiency, nuclear type 17, MIM#618239

7 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFAF6 were set to

7 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFAF6 was added gene: NDUFAF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF6 was set to Unknown