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  2. Defects of intrinsic and innate immunity
  3. SPPL2A
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Defects of intrinsic and innate immunity

Gene: SPPL2A

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

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

3 patients from 2 unrelated consanguineous families with BCG disease. Functional studies and mouse model replicating phenotype
Sources: Literature
Created: 21 Nov 2023, 1:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to mycobacterial disease

Publications

Created: 21 Nov 2023, 1:04 a.m.

Panel version: Imported from Mendelian susceptibility to Immune Disorders panel version 0.41

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data.
Sources: Expert list
Created: 5 Apr 2020, 7:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 86, MIM#619549; Susceptibility to mycobacteria and Salmonella

Publications

Created: 5 Apr 2020, 7:13 a.m.

Panel version: 0.80

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 86, MIM#619549
  • Susceptibility to mycobacteria and Salmonella
OMIM
608238
Clinvar variants
Variants in SPPL2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPPL2A were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency 86, MIM#619549; Susceptibility to mycobacteria and Salmonella

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sppl2a has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sppl2a has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPPL2A was added gene: SPPL2A was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPPL2A were set to 30127434 Phenotypes for gene: SPPL2A were set to Susceptibility to mycobacteria and Salmonella Review for gene: SPPL2A was set to AMBER