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| Optic Atrophy v0.68 | C19orf12 | Zornitza Stark Marked gene: C19orf12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.68 | C19orf12 | Zornitza Stark Added comment: Comment when marking as ready: OA associated both with mono-allelic and bi-allelic variants in this gene, and has been reported in families both with SPG and NBIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.68 | C19orf12 | Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.68 | C19orf12 | Zornitza Stark Classified gene: C19orf12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.68 | C19orf12 | Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.60 | C19orf12 |
Elena Savva gene: C19orf12 was added gene: C19orf12 was added to Optic Atrophy. Sources: Expert Review Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to PMID: 22584950; 21981780; 23857908 Phenotypes for gene: C19orf12 were set to ?Spastic paraplegia 43, autosomal recessive 61504; Neurodegeneration with brain iron accumulation 4 614298 Review for gene: C19orf12 was set to GREEN Added comment: PMID: 22584950 - reports three patients (two families). Two sibs from one family (chet missense with inframe deletion) did NOT have optic atrophy, the third patient did (chet frameshift with the same inframe deletion). Patients had NBIA. PMID: 21981780 - optic atrophy described as a "common finding". 19 families reported, optic atrophy was a feature in all familial cases (4/4), and most simplex cases (12/15) Patients were reported with both bilallelic and monoallelic genotypes. Patients had NBIA. PMID: 23857908 - 1 family with optic atrophy and SPG43. Same variant reported in an NBIA family Sources: Expert Review |
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