Sarcoma susceptibility
Gene: SMARCB1Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 3, OMIM:614608 and Rhabdoid tumors, somatic, OMIM:609322Created: 12 Mar 2021, 11:15 a.m. | Last Modified: 12 Mar 2021, 11:15 a.m.
Panel Version: 1.55
This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: SMARCB1; Phenotype submitted: Rhabdoid tu, schwannomatosis. Rated Amber as agreed at the Genomics Cancer Panel Workshop, 16th July 2019.Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2
Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCB1 were changed from Rhabdoid tu, schwannomatosis to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Schwannomatosis-1, susceptibility to}, OMIM:162091; Schwannomatosis 1, MONDO:0024517
Source NHS GMS was added to SMARCB1.
gene: SMARCB1 was added gene: SMARCB1 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: SMARCB1 was set to Phenotypes for gene: SMARCB1 were set to Rhabdoid tu, schwannomatosis