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.
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)
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.
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)