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Gene: NDUFS8

Green List (high evidence)
NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8)
EnsemblGeneIds (GRCh38): ENSG00000110717
EnsemblGeneIds (GRCh37): ENSG00000110717
OMIM: 602141, Gene2Phenotype
NDUFS8 is in 11 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 7 probands reported.

Onset in early infancy or childhood.

Characterised by cardiomyopathy, epilepsy, severe developmental delays and imaging abnormalities often involving the white matter, basal ganglia and brainstem. Childhood onset is associated with milder clinical phenotypes.
Created: 3 Oct 2024, 5:34 a.m. | Last Modified: 3 Oct 2024, 5:34 a.m.
Panel Version: 1.359

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222)

Publications

Created: 3 Oct 2024, 5:34 a.m.
Last Modified: 3 Oct 2024, 5:34 a.m.
Panel version: 1.359

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222)
OMIM
602141
Clinvar variants
Variants in NDUFS8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: ndufs8 has been classified as Green List (High Evidence).

5 Oct 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: NDUFS8 were changed from Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222)

5 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: NDUFS8 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: NDUFS8 was added gene: NDUFS8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)