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Rare syndromic craniosynostosis or isolated multisuture synostosis v1.106 HUWE1 Eleanor Williams commented on gene: HUWE1: NOTE: Variants in a specific codon (R110) associated with craniosynostosis. Variants in other codons are associated with intellectual disability.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.106 HUWE1 Eleanor Williams Publications for gene: HUWE1 were set to 25985138; 25590979:29180823
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.105 HUWE1 Eleanor Williams 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)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.104 HUWE1 Eleanor Williams Classified gene: HUWE1 as Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.104 HUWE1 Eleanor Williams Added comment: Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.104 HUWE1 Eleanor Williams Gene: huwe1 has been classified as Green List (High Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 HUWE1 Eleanor Williams Added phenotypes X-linked intellectual disability with CSS for gene: HUWE1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.60 HUWE1 Eleanor Williams Added comment: Comment on publications: Adding Moortgat et al 2018 PMID:29180823
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.60 HUWE1 Eleanor Williams Publications for gene: HUWE1 were set to 25985138; 25590979
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.59 HUWE1 Eleanor Williams Publications for gene: HUWE1 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 HUWE1 Tracy Lester reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked intellectual disability with CSS; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 HUWE1 Eleanor Williams reviewed gene: HUWE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 HUWE1 Eleanor Williams Source NHS GMS was added to HUWE1.
Rare syndromic craniosynostosis or isolated multisuture synostosis HUWE1 Andrew Wilkie edited their review of HUWE1