Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: STAT3
Scoring system to diagnose disorder does not include CSS (GeneReviews), although varying degrees of CSS can be seen. Variants cluster in DNA binding and SH2 domain. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyper IgE recurrent infection syndrome - 147060
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: STAT3; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment when marking as ready: Mutations are nearly all missense and concentrated in DNA-binding and SH2 domains, acting in dominant negative mechanism. Craniosynostosis is a low frequency association, evidence of immune deficiency should be present to confirm diagnosis.Created: 1 Feb 2016, 11:35 a.m.
Mutations are nearly all missense and concentrated in DNA-binding and SH2 domains, acting in dominant negative mechanism. Craniosynostosis is a low frequency association, evidence of immune deficiency should be present to confirm diagnosis.Created: 15 Sep 2015, 7:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Jobs syndrome; hyper-IgE syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Hyper IgE recurrent infection syndrome 147060 for gene: STAT3
Source NHS GMS was added to STAT3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for STAT3 were set to 147060
Publications for STAT3 were set to 20159255
This gene has been classified as Green List (High Evidence).
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
Mode of inheritance for STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
STAT3 was added to Craniosynostosis syndromespanel. Sources: Expert list