Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Andrew Wilkie (University of Oxford)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Greig cephalopolysyndactyly syndrome, OMIM:175700
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Osteogenesis imperfecta
- Hereditary ataxia with onset in adulthood
- IUGR and IGF abnormalities
- Unexplained young onset end-stage renal disease - additional genes
- Neurological ciliopathies
- Monogenic hearing loss
- Pituitary hormone deficiency
- Limb disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- CAKUT
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal ciliopathies
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Clefting
- DDG2P
- Monogenic short stature
- Hydrocephalus
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome 175700; 175700 to Greig cephalopolysyndactyly syndrome, OMIM:175700
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Greig cephalopolysyndactyly syndrome 175700 for gene: GLI3
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to GLI3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for GLI3 were set to 175700
Set publications
Richard Scott (Genomics England Curator)Publications for GLI3 were set to 21326280; 20583172
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for GLI3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)GLI3 was added to Craniosynostosis syndromespanel. Sources: Expert list