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Intellectual disability syndromic and non-syndromic

Gene: NDUFA8

Amber List (moderate evidence)

NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8)
EnsemblGeneIds (GRCh38): ENSG00000119421
EnsemblGeneIds (GRCh37): ENSG00000119421
OMIM: 603359, Gene2Phenotype
NDUFA8 is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

3 individuals from 2 unrelated families reported with phenotypic features including microcephaly (1/3), seizures (2/3), developmental delay (3/3) and MRI-B changes (3/3).
Sources: Literature
Created: 18 Oct 2021, 12:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 37- 619272; Epilepsy; Microcephaly; Developmental Delay

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 37- 619272
  • Epilepsy
  • Microcephaly
  • Developmental Delay
OMIM
603359
Clinvar variants
Variants in NDUFA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa8 has been classified as Amber List (Moderate Evidence).

18 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa8 has been classified as Amber List (Moderate Evidence).

18 Oct 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: NDUFA8 was added gene: NDUFA8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA8 were set to 32385911; 33153867 Phenotypes for gene: NDUFA8 were set to Mitochondrial complex I deficiency, nuclear type 37- 619272; Epilepsy; Microcephaly; Developmental Delay Review for gene: NDUFA8 was set to AMBER