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

Regression

Gene: NDUFS2

Green List (high evidence)

NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)
EnsemblGeneIds (GRCh38): ENSG00000158864
EnsemblGeneIds (GRCh37): ENSG00000158864
OMIM: 602985, Gene2Phenotype
NDUFS2 is in 11 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants associated with respiratory chain complex I deficiency in multiple families. Developmental regression described in a number of reported cases.

--

PMID 22036843 - report one patient with nystagmus, optic atrophy, seizures and regression.

PMID 20819849 - 4 unrelated patients with compound het variants with Leigh Syndrome/Leigh-like syndrome phenotype. One patient reported to have multiple seizures with normal EEGs.

PMID: 11220739 - 4 patients from 3 unrelated families, phenotypic features include regression, bilateral optic atrophy, nystagmus, MRI-B basal ganglia anomalies, cerebral atrophy, muscle hypotonia, hypertrophic cardiomyopathy.

PMID: 23266820 - 2 siblings, compound het - developmental regression, ataxic gait with spasticity, nystagmus, optic nerve atrophy

PMID 28031252 - 3 siblings, compound het. LHON-like optic neuropathy. No extra ocular features.
Created: 21 Mar 2022, 12:03 a.m. | Last Modified: 21 Mar 2022, 12:03 a.m.
Panel Version: 0.433

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
OMIM
602985
Clinvar variants
Variants in NDUFS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufs2 has been classified as Green List (High Evidence).

21 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228

21 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFS2 were set to

21 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFS2 was added gene: NDUFS2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFS2 was set to Unknown