Activity
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| Embryonal tumour of possible germline origin v0.7 | SUFU | Achchuthan Shanmugasundram commented on gene: SUFU: SUFU 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 | SUFU | Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: basal cell nevus syndrome 2, MONDO:0958189, {Medulloblastoma}, OMIM:155255, {Meningioma, familial, susceptibility to}, OMIM:607174, Basal cell nevus syndrome 2, OMIM:620343; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.1 | SUFU |
Achchuthan Shanmugasundram gene: SUFU was added gene: SUFU was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SUFU were set to {Medulloblastoma}, OMIM:155255; Basal cell nevus syndrome 2, OMIM:620343; {Meningioma, familial, susceptibility to}, OMIM:607174; basal cell nevus syndrome 2, MONDO:0958189 |
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