Sarcoma susceptibilityGene: BLM
This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: RECQL3; Phenotype submitted: Bloom; Evidence for inclusion: PMID:28338660. 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: BLM was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were changed from Bloom to Bloom syndrome, OMIM:210900; Osteosarcoma (disease), MONDO:0009807
Source NHS GMS was added to BLM.
gene: BLM was added gene: BLM was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: BLM was set to Publications for gene: BLM were set to 28338660 Phenotypes for gene: BLM were set to Bloom