This Panel is marked as Internal
DNA Repair Genes pertinent cancer 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
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
- Activity: Bloom syndrome helicase
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- Complete
- Panels with this gene
-
- Severe microcephaly
- Fetal anomalies
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Primary ovarian insufficiency
- Osteogenesis imperfecta
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Severe insulin resistance and lipodystrophy syndromes
- Confirmed Fanconi anaemia or Bloom syndrome
- Intellectual disability
- Monogenic diabetes
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- IUGR and IGF abnormalities
- Childhood solid tumours
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BLM was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BLM was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database