Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: RECQL4
Cardinal features are CSS and radal aplasia, phenotypic overlap with Sethre-Chotzen ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Baller-Gerold syndrome - 218600
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: RECQL4; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
A minority of cases of RECQL4 mutations are associated with craniosynostosis and radial ray defects. Rothmund-Thomson and RAPADALINO syndromes are more common presentations, with poikiloderma being the most prominent featureCreated: 15 Sep 2015, 7:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Baller-Gerold syndrome
Publications
Added phenotypes Baller-Gerold syndrome 218600 for gene: RECQL4
Source NHS GMS was added to RECQL4. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for RECQL4 were set to 218600
Publications for RECQL4 were set to 24635570
Mode of inheritance for RECQL4 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
RECQL4 was added to Craniosynostosis syndromespanel. Sources: Expert list