1. Panels
  2. Newborns main panel
  3. STAT2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: STAT2

Green List (high evidence)
STAT2 (signal transducer and activator of transcription 2)
EnsemblGeneIds (GRCh38): ENSG00000170581
EnsemblGeneIds (GRCh37): ENSG00000170581
OMIM: 600556, Gene2Phenotype
STAT2 is in 8 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: 34448086 - review 5 families PMID: 37074537 and PMID: 36976641 - 23 patients - authors include scott hackett and sophie hambleton. T and B cells appear normal when patient is well
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

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: STAT2 was added gene: STAT2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAT2 were set to Immunodeficiency 44