Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CYP26B1
Two unrelated families reported initially - 4 cases total. Three sibs had calvarial mineralization defects. Fourth case had coronal and lambdoid CSS (Laue et al 2011). Ko mice have radiohumeral synostosis and calvarial hypoplasia. Partial loss in zebrafish causes coronal synostosis. Morton et al 2016 report further case with MSS and a phenotype similar to ABS/Pfeiffer. No nonsense/fs reported so far ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. Now 3 casesCreated: 21 May 2019, 12:16 p.m.
Laue et al 2011 PMID: 22019272 - 2 families.
Morton et al 2016 PMID: 27410456 - 1 familyCreated: 2 May 2019, 3:56 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: CYP26B1; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Severe disorder, single report of 2 families with craniosynostosis in one of themCreated: 14 Sep 2015, 12:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniosynostosis and multiple skeletal anomalies
Publications
Mode of inheritance for gene: CYP26B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: cyp26b1 has been classified as Green List (High Evidence).
Publications for gene: CYP26B1 were set to
Source NHS GMS was added to CYP26B1.
This gene has been classified as Red List (Low Evidence).
CYP26B1 was added to Craniosynostosis syndromespanel. Sources: Expert list
CYP26B1 was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen