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  3. NDUFS2
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Optic Atrophy

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

One family with isolated LHON, but optic atrophy is a feature of the multi-system mito disorder.
Created: 8 Nov 2023, 8:50 p.m. | Last Modified: 8 Nov 2023, 8:50 p.m.
Panel Version: 1.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569

Publications

Created: 8 Nov 2023, 8:50 p.m.
Last Modified: 8 Nov 2023, 8:50 p.m.
Panel version: 1.23

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

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.
Sources: Literature
Created: 21 Mar 2022, 12:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 Mar 2022, 12:01 a.m.

Panel version: 1.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
  • Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569
OMIM
602985
Clinvar variants
Variants in NDUFS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569

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

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: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: NDUFS2 was added gene: NDUFS2 was added to Optic Atrophy. Sources: Literature Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS2 were set to 28031252; 31411514; 22036843; 20819849; 11220739; 23266820; 31411514 Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 Review for gene: NDUFS2 was set to GREEN