This Panel is marked as Internal
Renal and urinary tract disorders
Gene: GLI3
GLI3 (GLI family zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
3 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pallister-Hall syndrome
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 4 Aug 2016, 1:05 p.m.
Comment on phenotypes: Also associated with Greig cephalopolysyndactyly syndrome 175700, Polydactyly, postaxial, types A1 and B 174200, Polydactyly, preaxial, type IV 174700 and {Hypothalamic hamartomas, somatic} 241800Created: 4 Aug 2016, 1:04 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to amber due to review. Confirmed DD gene for Pallister-hall syndrome, preaxial polydactyly type IV and Type A, Greig cephalopolysyndactyly sydrome.Created: 29 Mar 2016, 10:58 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pallister-Hall syndrome
- Pallister-Hall syndrome 146510
- 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
30 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
20 Dec 2018, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Pallister-Hall syndrome 146510 for gene: GLI3
20 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GLI3 was added gene: GLI3 was added to Renal and urinary tract disorders. Sources: 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 Pallister-Hall syndrome