Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MOGS
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
Comment on list classification: Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene. At least 5 variants reported in 3 unrelated cases. PMID 29235540 characterizes immunodeficiency as a feature of Congenital disorder of glycosylation, type IIbCreated: 1 May 2018, 9:16 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): MOGS (GCS1) .PanelApp HGNC gene symbol check: MOGS . IUIS Disease: Mannosyl-oligosaccharide glucosidase deficiency (MOGS) . IUIS Inheritance: AR .T cells: Decreased, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Bacterial and viral infections, severe neurologic disease, also known as congenital disorder of glycosylation type IIb (CDG-IIb). IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID PhenotypeCreated: 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 supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MOGS, GRID_Gene_Symbol: MOGS, GRID_Transcript_ENS_Community submitted: ENST00000233616, GRID_Transcript_RefSeq: NM_006302.2, GRID_Transcript_ENS_used_on_Production: ENST00000233616Created: 17 Apr 2018, 12:12 p.m.
Source NHS GMS was added to MOGS.
Source North West GLH was added to MOGS.
Source London North GLH was added to MOGS.
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 MOGS were set to Congenital disorder of glycosylation, type IIb 606056, Bacterial and viral infections, severe neurologic disease, also known as congenital disorder of glycosylation type IIb (CDG-IIb), Predominantly Antibody Deficiencies
IUIS Classification February 2018 was added to MOGS. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to MOGS. Panel: Primary immunodeficiency disorders
Gene: mogs has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for MOGS were set to Congenital disorder of glycosylation, type IIb 606056
Publications for MOGS were set to 29235540; 10788335; 24716661
Expert Review Amber was added to MOGS. Panel: Primary immunodeficiency disorders
Phenotypes for gene MOGS were set to Congenital disorder of glycosylation, type Iib
MOGS was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
MOGS was created by Louise Daugherty