Undiagnosed metabolic disorders
Gene: STAT2

STAT2 (signal transducer and activator of transcription 2)
EnsemblGeneIds (GRCh38): ENSG00000170581
EnsemblGeneIds (GRCh37): ENSG00000170581
OMIM: 600556, Gene2Phenotype
STAT2 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Comment on list classification: Based on recommendation of Helen Britain (Clinical Fellow, Genomics England), that the majority of cases will be presenting in the context of overwhelming infection. The raised lactate and encephalomyopathy are potentially relevant phenotypes for this panel, however more evidence is needed on how common this presentation is, and whether it is always clearly associated with a proven infection.
Created: 8 Aug 2019, 5:23 p.m. | Last Modified: 8 Aug 2019, 5:23 p.m.

Panel Version: 1.129

Sources: Other
Created: 8 Aug 2019, 5:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 44 616636

Created: 8 Aug 2019, 5:19 p.m.

Panel version: 1.128

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Other

Phenotypes

Immunodeficiency 44 616636

OMIM

600556

Clinvar variants

Variants in STAT2

Penetrance

None

Panels with this gene

History Filter Activity

8 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: stat2 has been classified as Amber List (Moderate Evidence).

8 Aug 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: STAT2 was added gene: STAT2 was added to Undiagnosed metabolic disorders. Sources: Other Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAT2 were set to Immunodeficiency 44 616636 Review for gene: STAT2 was set to AMBER

Undiagnosed metabolic disorders Gene: STAT2