GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
polydactyly-syndactyly-triphalangism SD gp - many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Greig cephalopolysyndactyly syndrome 175700; Pallister-Hall syndrome 146510; Polydactyly, postaxial, types A1 and B 174200; Polydactyly, preaxial, type IV 174700; {Hypothalamic hamartomas, somatic} 241800
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Greig cephalopolysyndactyly syndrome 175700
- Polydactyly, postaxial, types A1 and B 174200
- Polydactyly, preaxial, type IV 174700
- Pallister-Hall syndrome 146510
- {Hypothalamic hamartomas, somatic} 241800
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- CAKUT
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Skeletal ciliopathies
- Clefting
- Limb disorders
- Skeletal dysplasia
- Monogenic short stature
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Hydrocephalus
- Osteogenesis imperfecta
- Hereditary ataxia with onset in adulthood
- Unexplained kidney failure in young people
- Intellectual disability
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Pituitary hormone deficiency
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: GLI3 was added gene: GLI3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome 175700; Polydactyly, postaxial, types A1 and B 174200; Polydactyly, preaxial, type IV 174700; Pallister-Hall syndrome 146510; {Hypothalamic hamartomas, somatic} 241800