Activity
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| Embryonal tumour of possible germline origin v0.7 | PTCH1 | Achchuthan Shanmugasundram commented on gene: PTCH1: PTCH1 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.2 | PTCH1 | Achchuthan Shanmugasundram reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Basal cell nevus syndrome 1, OMIM:109400, basal cell nevus syndrome 1, MONDO:0958174; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.1 | PTCH1 |
Achchuthan Shanmugasundram gene: PTCH1 was added gene: PTCH1 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTCH1 were set to Basal cell nevus syndrome 1, OMIM:109400; basal cell nevus syndrome 1, MONDO:0958174 |
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