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Severe multi-system atopic disease with high IgE

Gene: STAT3

Green List (high evidence)

STAT3 (signal transducer and activator of transcription 3)
EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 16 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment on mode of pathogenicity: This is a dominant negative gain-of-function mechanism; causative variants are missense or single codon indels.
Created: 19 Dec 2016, 1:45 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyper IgE Syndrome
  • Hyper IgE syndromes
  • Hyper-IgE recurrent infection syndrome, 147060
OMIM
102582
Clinvar variants
Variants in STAT3
Penetrance
Complete
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen Thomas (Genomics England Curator)

Literature search, UKGTN search - no other genes identified for Hyper-IgE syndrome

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Set mode of pathogenicity

Ellen Thomas (Genomics England Curator)

Mode of pathogenicity for STAT3 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

STAT3 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

STAT3 was added to Severe multi-system atopic disease with high IgEpanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

STAT3 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

STAT3 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Illumina TruGenome Clinical Sequencing Services