Activity
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6 actions
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| PTEN Hamartoma Tumour Syndrome v1.4 | PTEN | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #158350) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PTEN Hamartoma Tumour Syndrome v1.4 | PTEN | Achchuthan Shanmugasundram Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos disease, OMIM:158350; PTEN harmartoma tumor syndrome with immune disorder, MONDO:0700330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PTEN Hamartoma Tumour Syndrome v1.2 |
Achchuthan Shanmugasundram Panel name changed from PTEN Hamartoma Tumor Syndrome to PTEN Hamartoma Tumour Syndrome List of related panels changed from R213 to R213; PTEN Hamartoma Tumor Syndrome |
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| PTEN Hamartoma Tumour Syndrome v0.1 | PTEN | Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PTEN Hamartoma Tumour Syndrome v0.1 | PTEN |
Achchuthan Shanmugasundram gene: PTEN was added gene: PTEN was added to PTEN Hamartoma Tumor Syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| PTEN Hamartoma Tumour Syndrome v0.0 |
Achchuthan Shanmugasundram Added Panel PTEN Hamartoma Tumor Syndrome Set list of related panels to R213 Set panel types to: GMS Rare Disease |
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