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| Optic Atrophy v1.20 | PTCD3 | Zornitza Stark Marked gene: PTCD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.20 | PTCD3 | Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.20 | PTCD3 | Zornitza Stark Classified gene: PTCD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.20 | PTCD3 | Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.19 | PTCD3 |
Zornitza Stark gene: PTCD3 was added gene: PTCD3 was added to Optic Atrophy. Sources: Expert list Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTCD3 were set to 30607703; 19427859; 36450274 Phenotypes for gene: PTCD3 were set to Combined oxidative phosphorylation deficiency-51, MIM#619057; Intellectual disability; optic atrophy; Leigh-like syndrome Review for gene: PTCD3 was set to GREEN Added comment: Four families reported plus functional data. Optic atrophy is a feature. Sources: Expert list |
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