| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Optic Atrophy v0.84 | SLC52A2 | Zornitza Stark Marked gene: SLC52A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.84 | SLC52A2 | Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.79 | SLC52A2 | Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.79 | SLC52A2 | Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.60 | SLC52A2 |
Elena Savva gene: SLC52A2 was added gene: SLC52A2 was added to Optic Atrophy. Sources: Expert Review Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to PMID: 22864630; 29961509; 30377535; 29287867 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 Review for gene: SLC52A2 was set to GREEN Added comment: PMID: 22864630 - 1 child with optic atrophy. She has biallelic chet missense, functional studies confirm a loss of function consequence. PMID: 23243084 - reported by PanelApp UK but no patient observed with optic atrophy PMID: 29961509 - 1 family (two siblings) with optic atrophy and a homozygous missense. PMID: 30377535 - Described optic atrophy as a "typical" common feature of riboflavin transporter deficiency PMID: 29287867 - A Iranian family (3 sibs) with a homozygous missense and optic atrophy Sources: Expert Review |
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