Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: HUWE1
3 female cases with R110Q mutation have CSS (Moortgat et al 2018). Same variant also reported previously with similar phenotype. Also 2 males with R110W and CSS. Other variants cause ID only.Created: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
X-linked intellectual disability with CSS
NOTE: Variants in a specific codon (R110) are associated with craniosynostosis. Variants in other codons are associated with intellectual disability.Created: 21 May 2019, 12:35 p.m.
Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13.Created: 21 May 2019, 12:33 p.m.
Comment on publications: Adding Moortgat et al 2018 PMID:29180823Created: 2 May 2019, 4:09 p.m.
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: HUWE1; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
4 cases (2 male, 2 female) having craniosynostosis associated with mutation in identical codon p.Arg110; other mutations associated with X-linked intellectual disability. Mechanism of this genotype-phenotype specificity unknown but convincing regarding pathogenic link to mutations at this particular codonCreated: 11 Nov 2016, 12:23 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Publications for gene: HUWE1 were set to 25985138; 25590979:29180823
Mode of inheritance for gene: HUWE1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene: huwe1 has been classified as Green List (High Evidence).
Added phenotypes X-linked intellectual disability with CSS for gene: HUWE1
Publications for gene: HUWE1 were set to 25985138; 25590979
Publications for gene: HUWE1 were set to
Source NHS GMS was added to HUWE1.
This gene has been classified as Red List (Low Evidence).
HUWE1 was added to Craniosynostosis syndromespanel. Sources: Expert list