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| Optic Atrophy v1.24 | NDUFS2 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.23 | NDUFS2 | Zornitza Stark reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252; Phenotypes: Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.6 | NDUFS2 | Zornitza Stark Marked gene: NDUFS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.6 | NDUFS2 | Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.6 | NDUFS2 | Zornitza Stark Classified gene: NDUFS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.6 | NDUFS2 | Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.5 | NDUFS2 |
Krithika Murali 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 Added comment: 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 |
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