Activity
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11 actions
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| Malformations of cortical development v7.18 | TBC1D32 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.18 | TBC1D32 | Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome, MONDO:0015375 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.17 | TBC1D32 | Achchuthan Shanmugasundram Tag gene-checked was removed from gene: TBC1D32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | TBC1D32 | Arina Puzriakova Tag Q3_21_rating was removed from gene: TBC1D32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | TBC1D32 | Arina Puzriakova reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | TBC1D32 |
Arina Puzriakova Source Expert Review Green was added to TBC1D32. Source NHS GMS was added to TBC1D32. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.149 | TBC1D32 | Sarah Leigh Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.141 | TBC1D32 | Eleanor Williams Tag gene-checked tag was added to gene: TBC1D32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.93 | TBC1D32 | Ivone Leong Tag Q3_21_rating tag was added to gene: TBC1D32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.93 | TBC1D32 | Ivone Leong Entity copied from Rare multisystem ciliopathy disorders v1.147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.93 | TBC1D32 |
Ivone Leong gene: TBC1D32 was added gene: TBC1D32 was added to Malformations of cortical development. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Amber Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566 Phenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome, MONDO:0015375 Penetrance for gene: TBC1D32 were set to Complete |
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