Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: STAT3

Green List (high evidence)

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 Wilkie

Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyper IgE recurrent infection syndrome - 147060

Publications

• 20159255

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

I don't know

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: green

Created: 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.

Green List (high evidence)

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

• 20159255

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