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This Panel is marked as Internal

Newborns main panel
Gene: STAT3

STAT3 (signal transducer and activator of transcription 3)
EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 17 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

hyper-IgE recurrent infection syndrome 1 curation results by ClinGen activity (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.135

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Hyper IgE recurrent infection syndrome

OMIM

Clinvar variants

Variants in STAT3

Penetrance

None

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

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to STAT3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to STAT3. Added phenotypes Hyper IgE recurrent infection syndrome for gene: STAT3 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyper IgE recurrent infection syndrome for gene: STAT3

31 May 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: STAT3.

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyper IgE recurrent infection syndrome for gene: STAT3

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to STAT3. Added phenotypes Hyper IgE recurrent infection syndrome for gene: STAT3 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to STAT3. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

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

9 Mar 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: STAT3.

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyper IgE recurrent infection syndrome for gene: STAT3

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: STAT3 was added gene: STAT3 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown