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Primary immunodeficiency

Gene: SPPL2A

Green List (high evidence)

SPPL2A (signal peptide peptidase like 2A)
EnsemblGeneIds (GRCh38): ENSG00000138600
EnsemblGeneIds (GRCh37): ENSG00000138600
OMIM: 608238, Gene2Phenotype
SPPL2A is in 3 panels

5 reviews

Zornitza Stark (Australian Genomics)

I don't know

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Agree green gene
Created: 23 Oct 2019, 7:07 a.m. | Last Modified: 23 Oct 2019, 7:07 a.m.
Panel Version: 1.132

Kimberly Gilmour (Great Ormond Street Hopsital)

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

Tracy Briggs (Manchester Genomic Medicine Centre)

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

Louise Daugherty (Genomics England Curator)

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
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 Green
Created: 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 Review
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria
  • Defects in Intrinsic and Innate Immunity
OMIM
608238
Clinvar variants
Variants in SPPL2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SPPL2A.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to SPPL2A.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SPPL2A.

1 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: sppl2a has been classified as Green List (High Evidence).

1 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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