Monogenic short stature
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
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:51 a.m.
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that BLM should be included on the panel. The initial clinical presentation of Bloom syndrome can be non-specific and it would be valuable to make an early diagnosis as growth hormone treatment is contra-indicated in this condition. Therefore kept BLM rating as Green.Created: 30 May 2019, 9:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
210900 Bloom syndrome; Bloom syndrome, 210900
Ivone Leong (Genomics England Curator)
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Bloom.Created: 14 May 2019, 1:25 p.m.
Phenotypes
Bloom
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- 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
26 Mar 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: BLM was added gene: BLM was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLM were set to Bloom syndrome, OMIM:210900