Lipodystrophy - childhood onset
Gene: BLM
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
Gene: blm has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: BLM. Tag Q3_23_NHS_review tag was added to gene: BLM.
Publications for gene: BLM were set to 7585968; 16763388; 21536711; 27710244; 2823277; 2947793
Publications for gene: BLM were set to 7585968; 16763388; 2153671; 27710244; 2823277; 2947793
Publications for gene: BLM were set to
Phenotypes for gene: BLM were changed from Bloom Syndrome, severe insulin resistance to Bloom syndrome, OMIM:210900; Insulin resistance, HP:0000855
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