Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: RAB23
CSS well defined part of syndrome ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome, 201000
Publications
Variants in this GENE are reported as part of current diagnostic practice
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: RAB23; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Current diagnosticCreated: 1 Feb 2016, 11:25 a.m.
Added phenotypes Carpenter syndrome 201000 for gene: RAB23
Source NHS GMS was added to RAB23. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for RAB23 were set to 201000
Publications for RAB23 were set to 17503333
Mode of inheritance for RAB23 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
RAB23 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
RAB23 was added to Craniosynostosis syndromespanel. Sources: Expert list