Infantile enterocolitis & monogenic inflammatory bowel disease

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 18 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Missense variants reported in OMIM for Autoimmune disease, multisystem, infantile-onset, 1 cases.
Created: 13 Oct 2016, 2:42 p.m.
Comment on list classification: Promoted from red to green due to expert review. Multiple case reports for autoimmune disease, multisystem, infantile-onset, 1 in OMIM.
Created: 13 Oct 2016, 2:40 p.m.
Comment on mode of pathogenicity: Gain of function - Flanagan SE, Haapaniemi E, Russell MA, et al . Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet 2014;46(8):812-814.
Created: 12 May 2016, 1:11 p.m.

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

13 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 Oct 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for STAT3 was changed to Other - please provide details in the comments

13 Oct 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1

13 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 May 2016, Gel status: 0

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for STAT3 was changed to Other - please provide details in the comments

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STAT3 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

STAT3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list