This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Severe microcephaly
- Monogenic diabetes
- Childhood solid tumours
- Haematological malignancies for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Monogenic short stature
- Fetal anomalies
- DDG2P
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: BLM was added gene: BLM was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BLM was set to Unknown