IUGR and IGF abnormalities
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
5 reviews
Mehul Dattani (UCL Institute of Child Health)
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Rebecca Foulger (Genomics England curator)
Comment on phenotypes: Added in current OMIM disorder and ID (MIM:210900)Created: 17 Aug 2017, 9:42 a.m.
emma baple (Genomics England Curator)
Comment on list classification: Three expert reviewers have made greenCreated: 17 Dec 2015, 12:02 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Bloom syndrome, OMIM:210900
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- Complete
- 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
24 Apr 2024, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BLM were changed from Bloom syndrome, 210900 to Bloom syndrome, OMIM:210900
17 Aug 2017, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for BLM were set to Bloom syndrome, 210900
17 Dec 2015, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
17 Dec 2015, Gel status: 4
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for BLM was changed to BIALLELIC, autosomal or pseudoautosomal
17 Dec 2015, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()BLM was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory