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| Embryonal tumour of possible germline origin v0.7 | TP53 | Achchuthan Shanmugasundram commented on gene: TP53: TP53 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 | TP53 | Achchuthan Shanmugasundram reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: {Basal cell carcinoma 7}, OMIM:614740, Li-Fraumeni syndrome, MONDO:0018875, adrenocortical carcinoma, hereditary, MONDO:0008734, nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775, {Glioma susceptibility 1}, OMIM:137800, {Colorectal cancer}, OMIM:114500, {Adrenocortical carcinoma, pediatric}, OMIM:202300, choroid plexus papilloma, MONDO:0009837, Li-Fraumeni syndrome, OMIM:151623, {Choroid plexus papilloma}, OMIM:260500, basal cell carcinoma, susceptibility to, 7, MONDO:0013876; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.1 | TP53 |
Achchuthan Shanmugasundram gene: TP53 was added gene: TP53 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TP53 were set to {Colorectal cancer}, OMIM:114500; {Adrenocortical carcinoma, pediatric}, OMIM:202300; choroid plexus papilloma, MONDO:0009837; {Choroid plexus papilloma}, OMIM:260500; Li-Fraumeni syndrome, MONDO:0018875; nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775; {Basal cell carcinoma 7}, OMIM:614740; Li-Fraumeni syndrome, OMIM:151623; basal cell carcinoma, susceptibility to, 7, MONDO:0013876; {Glioma susceptibility 1}, OMIM:137800; adrenocortical carcinoma, hereditary, MONDO:0008734 |
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