Growth failure in early childhood
Gene: BLMEnsemblGeneIds (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 list
- Expert Review Green
- Phenotypes
-
- Bloom syndrome, OMIM:210900
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- None
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BLM were changed from 210900 Bloom syndrome; Bloom syndrome, 210900; Bloom to Bloom syndrome, OMIM:210900
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Bloom syndrome, 210900; 210900 Bloom syndrome for gene: BLM
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Expert list was added to BLM. Added phenotypes Bloom for gene: BLM
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: BLM was added gene: BLM was added to Growth failure in early childhood. Sources: 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, 210900