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Severe Paediatric Disorders

Gene: STAT1

Green List (high evidence)

STAT1 (signal transducer and activator of transcription 1)
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: STAT1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3) | Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3) | Immunodeficiency 31C, autosomal dominant, 614162 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796
  • Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892
  • Immunodeficiency 31C, autosomal dominant, 614162
OMIM
600555
Clinvar variants
Variants in STAT1
Penetrance
None
Publications
Panels with this gene