Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PGM3
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 10 variants reported.Created: 9 May 2018, 10:55 a.m.
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): PGM3 .PanelApp HGNC gene symbol check: PGM3 . IUIS Disease: PGM3 deficiency . IUIS Inheritance: AR .T cells: Very low, .B cells: Low B and memory B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Hyper IgE Syndromes (HIES)Created: 2 Jul 2018, 10:35 a.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: PGM3, PanelApp HGNC gene symbol check: PGM3, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiencyCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: PGM3, GRID_Gene_Symbol: PGM3, GRID_Transcript_ENS_Community submitted: ENST00000506587, GRID_Transcript_RefSeq: NM_001199917.1, GRID_Transcript_ENS_used_on_Production: ENST00000506587Created: 17 Apr 2018, 12:12 p.m.
Source NHS GMS was added to PGM3.
Source North West GLH was added to PGM3.
Source London North GLH was added to PGM3.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene PGM3 were set to Immunodeficiency 23 615816, Combined immunodeficiency, Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination, Combined immunodeficiencies with associated or syndromic features
IUIS Classification February 2018 was added to PGM3. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to PGM3. Panel: Primary immunodeficiency disorders
Gene: pgm3 has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for PGM3 were set to 24589341; 24698316; 24931394
Phenotypes for PGM3 were set to Immunodeficiency 23 615816; Combined immunodeficiency
Expert Review Amber was added to PGM3. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to PGM3. Panel: Primary immunodeficiency disorders Phenotypes for gene PGM3 were set to Immunodeficiency 23, Combined immunodeficiency
Phenotypes for gene PGM3 were set to Immunodeficiency 23
PGM3 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
PGM3 was created by Louise Daugherty