Activity
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6 actions
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| Retinal disorders v8.75 | TBC1D32 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621280) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.75 | TBC1D32 | Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa 100, OMIM:621280; retinitis pigmentosa, MONDO:0019200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.6 | TBC1D32 | Achchuthan Shanmugasundram Classified gene: TBC1D32 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.6 | TBC1D32 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases and functional studies) for the promotion of this gene to green rating on the retinal disorders panel in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.6 | TBC1D32 | Achchuthan Shanmugasundram Gene: tbc1d32 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.5 | TBC1D32 |
Achchuthan Shanmugasundram gene: TBC1D32 was added gene: TBC1D32 was added to Retinal disorders. Sources: Literature dd_review, Q2_25_ promote_green tags were added to gene: TBC1D32. Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 37768732 Phenotypes for gene: TBC1D32 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: TBC1D32 was set to GREEN Added comment: PMID:37768732 reported the identification of biallelic variants in TBC1D32 gene in four individuals from three unrelated families with retinitis pigmentosa. In addition, data from Xenopus in vivo approaches and human induced pluripotent stem cell-derived (iPSC-derived) retinal models also support the disease association. This gene is not yet associated with any phenotypes in OMIM. Sources: Literature |
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