1. Panels
  2. Research panel - Severe Paediatric Disorders
  3. STAT1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Research panel - 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 9 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
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

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene STAT1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892; Immunodeficiency 31C, autosomal dominant, 614162 for gene: STAT1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892; Immunodeficiency 31C, autosomal dominant, 614162 for gene: STAT1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892; Immunodeficiency 31C, autosomal dominant, 614162 for gene: STAT1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892; Immunodeficiency 31C, autosomal dominant, 614162; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 for gene: STAT1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene STAT1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892; Immunodeficiency 31C, autosomal dominant, 614162 for gene: STAT1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to STAT1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to STAT1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: STAT1 was added gene: STAT1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: STAT1 was set to