Lipodystrophy - childhood onset
Gene: BLMEnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 20 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 31 Dec 2025, 7:17 p.m. | Last Modified: 31 Dec 2025, 7:17 p.m.
Panel Version: 4.66
This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.Created: 17 Jun 2024, 8:59 a.m. | Last Modified: 17 Jun 2024, 8:59 a.m.
Panel Version: 4.54
Comment on list classification: There is sufficient evidence available for the association of this gene with severe insulin resistance and hence it can be promoted to green rating at the next GMS review.Created: 8 Aug 2023, 2:36 p.m. | Last Modified: 8 Aug 2023, 2:36 p.m.
Panel Version: 4.47
Insulin resistance was observed in six individuals and lipid profile abnormalities were reported in five of ten individuals with Bloom syndrome (PMID:16763388).Created: 8 Aug 2023, 2:31 p.m. | Last Modified: 8 Aug 2023, 2:31 p.m.
Panel Version: 4.42
This gene was added on recommendation of NHSE Genomic Medicine Service:
Expert Review Green (https://panelapp.genomicsengland.co.uk/panels/174/gene/BLM/#!details) partial lipodystrophy and insulin resistance is a recognised clinical feature of bloom syndrome (PMID: 21536711, 29477938, 16763388) and has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244).Created: 2 Aug 2023, 11:35 a.m. | Last Modified: 3 Aug 2023, 4:59 p.m.
Panel Version: 4.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bloom Syndrome, severe insulin resistance
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Bloom syndrome, OMIM:210900
- Insulin resistance, HP:0000855
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Primary ovarian insufficiency
- Intellectual disability
- Insulin resistance (including lipodystrophy)
- Haematological malignancies cancer susceptibility
- 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
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE was removed from gene: BLM.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to BLM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: BLM.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Amber was added to BLM. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: BLM. Tag Q3_23_NHS_review was removed from gene: BLM.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to BLM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: blm has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: BLM. Tag Q3_23_NHS_review tag was added to gene: BLM.
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: BLM were set to 7585968; 16763388; 21536711; 27710244; 2823277; 2947793
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: BLM were set to 7585968; 16763388; 2153671; 27710244; 2823277; 2947793
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: BLM were set to
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: BLM were changed from Bloom Syndrome, severe insulin resistance to Bloom syndrome, OMIM:210900; Insulin resistance, HP:0000855
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: BLM was added gene: BLM was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLM were set to Bloom Syndrome, severe insulin resistance