Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: BLM

Green List (high evidence)

agree with green gene

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

YES- this is covered on our targeted exome

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): BLM (RECQL3) .PanelApp HGNC gene symbol check: BLM . IUIS Disease: Bloom Syndrome . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DNA Repair Defects other than those listed in Table 1

Created: 2 Jul 2018, 10:35 a.m.

Comment on list classification: changed from Amber to Green, there is enough evidence in the literature (more than three unrelated families) where BLM variants cause Bloom syndrome

Created: 11 May 2018, 3:19 p.m.

Mutations in the human RecQ helicase gene BLM, causes Bloom Syndrome, which is a disorder wth proportionate pre- and postnatal growth retardation, inflammatory skin changes due to hypersensitivity to UV light, telangiectatic, hypo- and hyperpigmented skin flecks, and predisposition to malignancy. More than half of the BS patients reported to the BS registry (http://weill.cornell.edu/bsr/genetics/) have developed cancer. BLM gene is on chromosome 15q26.1, which encodes a RecQ helicase, and belongs to the group of genomic instability disorders with DNA repair defects. One of the clinical features moderate immune deficiency, characterized by deficiency in certain immunoglobulin classes leading to recurrent pneumonia and ear infections (PMID:8231788).

Created: 11 May 2018, 2:54 p.m.

Comment on publications: added publications to support the disorder association of Bloom syndrome with BLM

Created: 11 May 2018, 2:53 p.m.

Comment on phenotypes: added OMIM MIMid.

Created: 11 May 2018, 2:39 p.m.

This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.

Created: 20 Apr 2018, 12:25 p.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: BLM Helicase, PanelApp HGNC gene symbol check: BLM, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / DNA-breakage disorder / Bloom syndrome

Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: BLM, GRID_Gene_Symbol: BLM, GRID_Transcript_ENS_Community submitted: ENST00000355112, GRID_Transcript_RefSeq: NM_000057.2, GRID_Transcript_ENS_used_on_Production: ENST00000355112

Created: 17 Apr 2018, 12:12 p.m.