Monogenic diabetes

Gene: BLM

No list

BLM (Bloom syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 21 panels

1 review

Ivone Leong (Genomics England Curator)

Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.
Created: 25 Jan 2019, 11:46 a.m.

History Filter Activity

24 Apr 2024, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, OMIM:210900

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: BLM.

30 Jan 2019, Gel status: 0

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Gene changed to grey status af

25 Jan 2019, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to BLM. Rating Changed from Green List (high evidence) to No List (delete)

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: BLM was added gene: BLM was added to Monogenic diabetes. 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