Severe microcephaly
Gene: BLMEnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 20 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Other
- Expert list
- Phenotypes
-
- Bloom syndrome, OMIM:210900
- Microcephalic primordial dwarfism
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- Complete
- Publications
- 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 Bloom syndrome, OMIM:210900 to Bloom syndrome, OMIM:210900; Microcephalic primordial dwarfism
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BLM were changed from MPD; microcephalic primordial dwarfism; Bloom syndrome, 210900; microcephaly to Bloom syndrome, OMIM:210900
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to BLM.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for BLM were set to 9285778; 20301572
Upload gene information
Alice Gardham (Genomics England)BLM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)BLM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene BLM was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Rebecca Foulger (Genomics England curator)BLM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
Created
Rebecca Foulger (Genomics England curator)BLM was created by rfoulger