Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.36 | TBC1D32 | Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.35 | TBC1D32 | Achchuthan Shanmugasundram changed review comment from: 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.; to: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #258865 & #621307) and the OMIM records were last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.35 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.35 | TBC1D32 | Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome 9, 258865 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.34 | TBC1D32 | Achchuthan Shanmugasundram Tag gene-checked was removed from gene: TBC1D32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v2.3 | TBC1D32 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TBC1D32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.149 | TBC1D32 | Sarah Leigh Publications for gene: TBC1D32 were set to 24285566 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | TBC1D32 | Nicola Ragge reviewed gene: TBC1D32: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 24285566; Phenotypes: Orofaciodigital syndrome 9, 258865; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | TBC1D32 | Ivone Leong edited their review of gene: TBC1D32: Changed phenotypes: Orofaciodigital syndrome 9, 258865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | TBC1D32 | Ivone Leong reviewed gene: TBC1D32: Rating: AMBER; Mode of pathogenicity: ; Publications: 24285566; Phenotypes: ?Abruzzo-Erickson syndrome, 302905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | TBC1D32 |
Ivone Leong gene: TBC1D32 was added gene: TBC1D32 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 24285566 Phenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome 9, 258865 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||