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Fetal anomalies

Gene: NDUFS8

Red List (low evidence)

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

at least 7 unrelated probands reported thus far

PMID:23430795 provides clinical summary of all. Only 1 onset at birth.
Of note, 1x HCM, 1x cardiomyopathy and 1x scapular winging were reported
Created: 31 Jan 2022, 1:17 a.m. | Last Modified: 31 Jan 2022, 1:17 a.m.
Panel Version: 0.2950

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
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

1 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufs8 has been classified as Red List (Low Evidence).

1 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFS8 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222

1 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFS8 were set to

24 Oct 2021, Gel status: 1

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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY