Skeletal dysplasia
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 23 panels
3 reviews
Elena Savva (Victorian Clinical Genetics Services)
*Genotype-phenotype correlation (PMID:24736735):
- PHS: truncation in the middle third of GLI3
- GCPS: PTVs elsewhere and other type of mutations
*Genotype-phenotype correlation b/w different types of polydactyly were suggested in PMID: 32591344:
-Anterior: NMD predicted variants
-Posterior: truncating variants, missense variants
PTVs in the middle third of gene: Result in a constitutive repressor protein. Cause PHS.
Haploinsufficiency due to PTVs elsewhere, or missense, splicing. Result in loss of DNA-binding capacity or activation of NMD or formation of unstable/mislocalised protein. Cause GCPS.
Several reported families have shown variable expressivity of phenotype (PMID: 18000979).Created: 26 Feb 2021, 1:34 a.m. | Last Modified: 26 Feb 2021, 1:34 a.m.
Panel Version: 0.6462
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polydactyly, postaxial, types A1 and B, MIM#174200; Greig cephalopolysyndactyly syndrome MIM#175700; Polydactyly, preaxial, type IV MIM#174700; Pallister-Hall syndrome MIM#146510
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Not a ciliopathy, but relatively common condition with phenotypic overlap.
Sources: Expert listCreated: 24 May 2020, 10:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Greig cephalopolysyndactyly syndrome, MIM# 175700; Polydactyly
Crystle Lee (Victorian Clinical Genetics Services)
Transcription factor that interacts with cilia (OMIM).
PMID: 24736735; Well reported to cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister–Hall syndrome (PHS) depending on location of the variant. This paper reviews genotype/phenotype correlation in 55 families.Created: 18 May 2020, 2:31 a.m. | Last Modified: 18 May 2020, 2:31 a.m.
Panel Version: 0.152
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Greig cephalopolysyndactyly syndrome (MIM#175700); Pallister-Hall syndrome (MIM#146510)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- {Hypothalamic hamartomas, somatic} 241800
- Polydactyly, postaxial, types A1 and B 174200
- Greig cephalopolysyndactyly syndrome 175700
- Pallister-Hall syndrome 146510
- Polydactyly, preaxial, type IV 174700
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- None
- Panels with this gene
-
- Callosome
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
- Growth failure
- Joubert syndrome and other neurological ciliopathies
- Overgrowth
- Ciliopathies
- Polydactyly
- Clefting disorders
- BabyScreen+ newborn screening
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Hydrocephalus_Ventriculomegaly
- Skeletal Dysplasia_Fetal
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Holoprosencephaly and septo-optic dysplasia
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GLI3 was added gene: GLI3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI3 were set to {Hypothalamic hamartomas, somatic} 241800; Polydactyly, postaxial, types A1 and B 174200; Greig cephalopolysyndactyly syndrome 175700; Pallister-Hall syndrome 146510; Polydactyly, preaxial, type IV 174700