Activity
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6 actions
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| Optic neuropathy v3.7 | ISCA2 | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: ISCA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.7 | ISCA2 | Achchuthan Shanmugasundram reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.6 | ISCA2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ISCA2. Source NHS GMS was added to ISCA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Optic neuropathy v2.43 | ISCA2 | Ivone Leong Classified gene: ISCA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.43 | ISCA2 | Ivone Leong Gene: isca2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.42 | ISCA2 |
Ivone Leong gene: ISCA2 was added gene: ISCA2 was added to Optic neuropathy. Sources: Literature Q2_21_rating tags were added to gene: ISCA2. Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA2 were set to 25539947; 29297947; 29122497; 29359243 Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370; optic atrophy, MONDO:0003608 Review for gene: ISCA2 was set to GREEN Added comment: This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There are >3 unrelated cases. Patients usually present with a triad of neurodevelopmental regression, nystagmus with optic atrophy, and diffuse white matter disease. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. Sources: Literature |
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