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Newborns main panel

Gene: SPPL2A

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

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 30127434 - 2 families, PMID: 39586751 - 1 case
Created: 31 Dec 2025, 2:28 p.m. | Last Modified: 31 Dec 2025, 2:28 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:28 p.m.
Last Modified: 31 Dec 2025, 2:28 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 86, mycobacteriosis
OMIM
608238
Clinvar variants
Variants in SPPL2A
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: SPPL2A was added gene: SPPL2A was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPPL2A were set to Immunodeficiency 86, mycobacteriosis