Primary ovarian insufficiency

Gene: BLM

Red List (low evidence)

BLM (Bloom syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 17 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

POI as with any premature ageing syndrome is expected.
Created: 9 Jun 2017, 4:30 p.m.

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as red as patients with Bloom syndrome would be expected to be recruited under a different disease category given the syndromic phenotype
Created: 30 May 2017, 1:27 p.m.
Comment when marking as ready: Marked as red as patients with Bloom syndrome would be expected to be recruited under a different disease category given the syndromic phenotype
Created: 30 May 2017, 1:27 p.m.
POI can be a feature of Bloom syndrome
Created: 26 May 2017, 10:54 a.m.

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

30 May 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 May 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

BLM was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

25 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

BLM was created by arianna