Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SPPL2A
Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data.Created: 11 Apr 2020, 10:30 a.m. | Last Modified: 11 Apr 2020, 10:30 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Susceptibility to mycobacteria and Salmonella
Publications
Agree green geneCreated: 23 Oct 2019, 7:07 a.m. | Last Modified: 23 Oct 2019, 7:07 a.m.
Panel Version: 1.132
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
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
Comment on list classification: New gene recommended by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene GreenCreated: 1 Nov 2018, 7:01 p.m.
New gene suggested by external review (pers comm.) Vanessa Sancho Shimizu (Imperial College London) PMID:30264912. A new genetic etiology of MSMD has recently been described in three patients from two kindreds originating from Morocco and Turkey presenting Bacille Calmette‐Guerin (BCG) disease a few months after vaccination.
Rated Green due to 2 reported kindreds, functional evidence and a supporting mouse model PMID: 30264912;30127434
Sources: Literature, Expert ReviewCreated: 1 Nov 2018, 6:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity
Publications
Source NHS GMS was added to SPPL2A.
Source North West GLH was added to SPPL2A.
Source London North GLH was added to SPPL2A.
Gene: sppl2a has been classified as Green List (High Evidence).
gene: SPPL2A was added gene: SPPL2A was added to Primary immunodeficiency disorders. Sources: Literature,Expert Review Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPPL2A were set to 30264912; 30127434 Phenotypes for gene: SPPL2A were set to Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity Review for gene: SPPL2A was set to GREEN