This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Bloom Syndrome
- Lymphoid hematological malignancy
- Myeloid hematological malignancy
- Squamous cell carcinoma
- Gastrointestinal cancers
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- Complete
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Severe microcephaly
- Primary ovarian insufficiency
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Monogenic short stature
- Childhood solid tumours
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)BLM was added to Multiple Tumourspanel. Source: Expert Review Green
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BLM was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BLM was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)