Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: WDR35
Primarily characterised by skeletal abnormalities including CSS. ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia type 2 (Sensenbrenner syndrome) - 613610
Publications
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: WDR35; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Sensenbrenner syndrome is genetically heterogeneous, craniosynostosis appears particularly associated with mutations in WDR35Created: 15 Sep 2015, 8:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sensenbrenner syndrome
Publications
Added phenotypes Cranioectodermal dysplasia type 2 (Sensenbrenner syndrome) 613610 for gene: WDR35
Source NHS GMS was added to WDR35. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for WDR35 were set to 613610
Publications for WDR35 were set to 24123776
Mode of inheritance for WDR35 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
WDR35 was added to Craniosynostosis syndromespanel. Sources: Expert list