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Fetal anomalies

Gene: NDUFS4

Red List (low evidence)

NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)
EnsemblGeneIds (GRCh38): ENSG00000164258
EnsemblGeneIds (GRCh37): ENSG00000164258
OMIM: 602694, Gene2Phenotype
NDUFS4 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association. See PMID:27079373 for a literature review of 22 published cases.

Typically presents post-natally.
Created: 12 Apr 2020, 6:17 a.m. | Last Modified: 22 Feb 2022, 12:26 a.m.
Panel Version: 0.3839

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 1, 252010
  • Leigh syndrome, MIM#252010
OMIM
602694
Clinvar variants
Variants in NDUFS4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufs4 has been classified as Red List (Low Evidence).

22 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFS4 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME; LEIGH SYNDROME DUP to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010

22 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFS4 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: NDUFS4 was added gene: NDUFS4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME; LEIGH SYNDROME DUP