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Intellectual disability syndromic and non-syndromic

Gene: NDUFAF1

Green List (high evidence)

NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000137806
EnsemblGeneIds (GRCh37): ENSG00000137806
OMIM: 606934, Gene2Phenotype
NDUFAF1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Created: 7 Dec 2019, 8:02 a.m. | Last Modified: 5 Mar 2020, 2:23 a.m.
Panel Version: 0.2379

Phenotypes
Mitochondrial complex I deficiency, nuclear type 11, MIM#618234

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 11, MIM#618234
OMIM
606934
Clinvar variants
Variants in NDUFAF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf1 has been classified as Green List (High Evidence).

14 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11, MIM#618234

14 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFAF1 were set to

14 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFAF1 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: NDUFAF1 was added gene: NDUFAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF1 was set to Unknown