Sarcoma susceptibilityGene: SMARCA4
This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: SMARCA4; Phenotype submitted: undifferentiated uterine sarcoma; Evidence for inclusion: PMID:31190001. 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: SMARCA4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCA4 were changed from undifferentiated uterine sarcoma to Uterine corpus sarcoma, MONDO:0005210
Source NHS GMS was added to SMARCA4.
gene: SMARCA4 was added gene: SMARCA4 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: SMARCA4 was set to Publications for gene: SMARCA4 were set to 31190001 Phenotypes for gene: SMARCA4 were set to undifferentiated uterine sarcoma