Sarcoma susceptibility
Gene: BLM
BLM (Bloom syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 20 panels
1 review
Rebecca Foulger (Genomics England curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert list
- Phenotypes
-
- Bloom syndrome, OMIM:210900
- Osteosarcoma (disease), MONDO:0009807
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Osteogenesis imperfecta
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Monogenic diabetes
History Filter Activity
11 Mar 2021, Gel status: 2
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: BLM was changed from to BIALLELIC, autosomal or pseudoautosomal
11 Mar 2021, Gel status: 2
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BLM were changed from Bloom to Bloom syndrome, OMIM:210900; Osteosarcoma (disease), MONDO:0009807
1 Aug 2019, Gel status: 2
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to BLM.
23 Jul 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)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