Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: NDUFA10

Amber List (moderate evidence)

NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10)
EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families, functional data, but phenotypic description only available for one (DD/ID part of the phenotype).
Created: 4 Mar 2020, 5:12 a.m. | Last Modified: 4 Mar 2020, 5:12 a.m.
Panel Version: 0.2377

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 22, MIM#618243

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 22, MIM#618243
OMIM
603835
Clinvar variants
Variants in NDUFA10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa10 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: ndufa10 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: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22, MIM#618243

7 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA10 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: NDUFA10 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: NDUFA10 was added gene: NDUFA10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFA10 was set to Unknown