Limb disorders
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
PMID: 32591344 (2021) - Variants that likely produce haploinsufficiency are associated with anteriorly orientated (preaxial) polydactyly. Posterior (postaxial) phenotypes are associated with truncating variants in the activator domain, which is also related to a higher risk of corpus callosum agenesis.Created: 1 Jun 2021, 10:16 a.m. | Last Modified: 1 Jun 2021, 10:16 a.m.
Panel Version: 2.41
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Eleanor Williams (Genomics England Curator)
PMID: 31115189 - Umair et al 2019 - report a five generation Pakastani kindred having 12 affected individuals exhibiting nonsyndromic postaxial polydactyly type A condition. Using exome sequencing in the three affected individuals, they identified a novel heterozygous frameshift variant (c.3567_3568insG; p.Ala1190Glyfs*57) in the transcriptional activator (TA2) domain of GLI3. The variant segregates with the disease phenotype in all members of the family. The variant was not observed in the ExAC browser, gnomAD, 1,000 Genomes, Pakistan Genetic Mutation database (Qasim et al., 2018) and in 135 in‐house exomes (Pakistani exomes).Created: 7 Aug 2019, 12:13 p.m. | Last Modified: 7 Aug 2019, 12:13 p.m.
Panel Version: 1.44
Comment on list classification: Keeping this gene green on the Limb disorders panel, although it is also green on the Rare multisystem ciliopathies panel, on advice of Genomics England clinical team.Created: 2 Dec 2018, 10:18 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 7:50 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:04 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
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Greig cephalopolysyndactyly syndrome, OMIM:175700
- Pallister-Hall syndrome, OMIM:146510
- Polydactyly, postaxial, types A1 and B, OMIM:174200
- Polydactyly, preaxial, type IV, OMIM:174700
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal ciliopathies
- Neurological ciliopathies
- IUGR and IGF abnormalities
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- DDG2P
- Fetal anomalies
- Clefting
- Monogenic short stature
- Osteogenesis imperfecta
- Hereditary ataxia with onset in adulthood
- Unexplained young onset end-stage renal disease - additional genes
- Hydrocephalus
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome 175700; Pallister-Hall syndrome 146510; Polydactyly, postaxial, types A1 and B 174200; Polydactyly, preaxial, type IV 174700; {Hypothalamic hamartomas, somatic} 241800; Polydactyly to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510; Polydactyly, postaxial, types A1 and B, OMIM:174200; Polydactyly, preaxial, type IV, OMIM:174700
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: GLI3 were set to 31115189
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: GLI3 were set to
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: gli3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: gli3 has been classified as Green List (High Evidence).
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to GLI3. Panel: Limb disorders Phenotypes for gene GLI3 were set to Greig cephalopolysyndactyly syndrome 175700, Pallister-Hall syndrome 146510, Polydactyly, postaxial, types A1 and B 174200, Polydactyly, preaxial, type IV 174700, {Hypothalamic hamartomas, somatic} 241800, Polydactyly
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Radboud University Medical Center, Nijmegen was added to GLI3. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to GLI3. Panel: Limb disorders Expert list was added to GLI3. Panel: Limb disorders Emory Genetics Laboratory was added to GLI3. Panel: Limb disorders Expert Review Green was added to GLI3. Panel: Limb disorders UKGTN was added to GLI3. Panel: Limb disorders Model of inheritance for gene GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to GLI3. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)GLI3 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)GLI3 was created by Ellen McDonagh