Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: GLI3
Hurst et al report 5 cases with metopic (and sometimes sagittal) synostosis and Greig. Rare complication ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Greig cephalopolysyndactyly syndrome, 175700
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: GLI3; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Association of midline (metopic/sagittal) as a low frequency manifestation of Grieg syndrome with confirmed GLI3 mutations is secure based on independent reports. Only consider pathogenetically significant if other clinical features of Grieg syndrome presentCreated: 14 Sep 2015, 1:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Grieg cephalopolysyndactyly
Publications
Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome 175700; 175700 to Greig cephalopolysyndactyly syndrome, OMIM:175700
Added phenotypes Greig cephalopolysyndactyly syndrome 175700 for gene: GLI3
Source NHS GMS was added to GLI3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for GLI3 were set to 175700
Publications for GLI3 were set to 21326280; 20583172
Mode of inheritance for GLI3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
GLI3 was added to Craniosynostosis syndromespanel. Sources: Expert list