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Possible mitochondrial disorder - nuclear genes

Gene: STAT2

Red List (low evidence)

STAT2 (signal transducer and activator of transcription 2)
EnsemblGeneIds (GRCh38): ENSG00000170581
EnsemblGeneIds (GRCh37): ENSG00000170581
OMIM: 600556, Gene2Phenotype
STAT2 is in 9 panels

4 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 44, 616636

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 3 families reported in the literature.
Created: 1 Sep 2018, 4:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 44, MIM#616636

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 2 siblings, and one unrelated case and supporting functional evidence - placed in the red list as more evidence required for this to be a diagnostic-grade gene.
Created: 15 Feb 2016, 5:36 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

mitochondrial fission defect
Created: 7 Feb 2016, 10:47 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Immunodeficiency 44, 616636
OMIM
600556
Clinvar variants
Variants in STAT2
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: STAT2 was added gene: STAT2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAT2 were set to Immunodeficiency 44, 616636