IUGR and IGF abnormalities

Gene: BLM

Green List (high evidence)

BLM (Bloom syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 16 panels

5 reviews

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

Comment on phenotypes: Added in current OMIM disorder and ID (MIM:210900)
17 Aug 2017, 9:42 a.m.

emma baple (Genomics England Curator)

Comment on list classification: Three expert reviewers have made green
17 Dec 2015, 12:02 p.m.

History Filter Activity

17 Aug 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for BLM were set to Bloom syndrome, 210900

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for BLM was changed to BIALLELIC, autosomal or pseudoautosomal

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BLM was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory