Primary ovarian insufficiency
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
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
POI as with any premature ageing syndrome is expected.Created: 9 Jun 2017, 4:30 p.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as red as patients with Bloom syndrome would be expected to be recruited under a different disease category given the syndromic phenotypeCreated: 30 May 2017, 1:27 p.m.
Comment when marking as ready: Marked as red as patients with Bloom syndrome would be expected to be recruited under a different disease category given the syndromic phenotypeCreated: 30 May 2017, 1:27 p.m.
POI can be a feature of Bloom syndrome
Created: 26 May 2017, 10:54 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Bloom syndrome, OMIM:210900
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- Complete
- Publications
- 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: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BLM were changed from Bloom syndrome 210900 to Bloom syndrome, OMIM:210900
31 May 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
30 May 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
30 May 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
25 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)BLM was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
25 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)BLM was created by arianna