Lipodystrophy - childhood onset

Gene: BLM

Amber List (moderate evidence)

BLM (Bloom syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 20 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

History Filter Activity

8 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: blm has been classified as Amber List (Moderate Evidence).

8 Aug 2023, Gel status: 1

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.

8 Aug 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: BLM were set to 7585968; 16763388; 21536711; 27710244; 2823277; 2947793

8 Aug 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: BLM were set to 7585968; 16763388; 2153671; 27710244; 2823277; 2947793

8 Aug 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: BLM were set to

8 Aug 2023, Gel status: 1

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

2 Aug 2023, Gel status: 1

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