Activity
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13 actions
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| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v1.3 | SUFU | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620343) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v1.3 | SUFU | Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from to Basal cell nevus syndrome 2, OMIM:620343; basal cell nevus syndrome 2, MONDO:0958189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v1.2 | PTCH1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #109400) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v1.2 | PTCH1 | Achchuthan Shanmugasundram Phenotypes for gene: PTCH1 were changed from to Basal cell nevus syndrome 1, OMIM:109400; basal cell nevus syndrome 1, MONDO:0958174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v1.1 | Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v1.0 | Sarah Leigh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v0.3 | Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v0.1 | SUFU | Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v0.1 | PTCH1 | Achchuthan Shanmugasundram reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v0.1 | SUFU |
Achchuthan Shanmugasundram gene: SUFU was added gene: SUFU was added to Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v0.1 | PTCH1 |
Achchuthan Shanmugasundram gene: PTCH1 was added gene: PTCH1 was added to Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v0.0 |
Achchuthan Shanmugasundram Added Panel Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome Set list of related panels to R214 Set panel types to: GMS Rare Disease |
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