Confirmed Fanconi anaemia or Bloom syndrome
Gene: BLMEnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 20 panels
4 reviews
Steve Keeney (Central Manchester Foundation Trust)
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.Created: 18 Feb 2019, 2:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bloom syndrome, 210900
Mandy nesbitt (Healthcare Professional)
Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 4:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
210900 Bloom syndrome
Louise Daugherty (Genomics England Curator)
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Bloom syndrome 210900; PMID(s): none submittedCreated: 18 Feb 2019, 2:40 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210900 Bloom syndrome; PMID(s): none submittedCreated: 14 Feb 2019, 4:52 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Bloom syndrome, 210900; PMID(s): none submittedCreated: 6 Feb 2019, 1:26 p.m.
Carl Fratter (Oxford University Hospitals NHS Trust)
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 1:26 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- North West GLH
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
- Phenotypes
-
- Bloom syndrome, OMIM:210900
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- None
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Monogenic short stature
- Childhood solid tumours
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Monogenic diabetes
- Intellectual disability
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BLM were changed from 210900 Bloom syndrome; Bloom syndrome, 210900 to Bloom syndrome, OMIM:210900
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Bloom syndrome, 210900 for gene: BLM
Added New Source
Louise Daugherty (Genomics England Curator)Source North West GLH was added to BLM.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes 210900 Bloom syndrome for gene: BLM
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to BLM.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to BLM.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to BLM. Mode of inheritance for gene BLM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bloom syndrome, 210900 for gene: BLM Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: BLM was added gene: BLM was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: BLM was set to