Coarse facial features including Coffin-Siris-like disorders

Gene: STAT3

Red List (low 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

Alice Gardham (Genomics England)

Comment when marking as ready: Unlikely to present with coarse facial features. Usually presents with immune deficiency in early infancy
Created: 24 Nov 2016, 9:54 a.m.

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

History Filter Activity

24 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jan 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

STAT3 was created by alicegardham

29 Jan 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

STAT3 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN