| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.175 | TBC1D32 | Zornitza Stark Marked gene: TBC1D32 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.175 | TBC1D32 | Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.175 | TBC1D32 | Zornitza Stark Classified gene: TBC1D32 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.175 | TBC1D32 | Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.174 | TBC1D32 |
Zornitza Stark gene: TBC1D32 was added gene: TBC1D32 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 37768732; 39930170 Phenotypes for gene: TBC1D32 were set to Retinitis pigmentosa 100, MIM# 621280 Review for gene: TBC1D32 was set to GREEN Added comment: PMID 37768732: 4 individuals from three unrelated families with bi-allelic variants. Some supportive functional data. PMID 39930170: fourth family reported. Biallelic variants in this gene are also associated with a multi-system ciliopathy. Sources: Expert Review |
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