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  3. SPPL2A
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Immunological disorders_SuperPanel_PanelAppAustralia

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

0 reviews

Details

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

History Filter Activity

7 Apr 2020, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SPPL2A was added gene: SPPL2A was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert list,Expert Review Amber 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