Unexplained kidney failure in young people
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
1 review
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Pallister-Hall syndrome, OMIM:146510
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Unexplained young onset end-stage renal disease - additional genes
- Hydrocephalus
- Skeletal ciliopathies
- Neurological ciliopathies
- IUGR and IGF abnormalities
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- 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
- Clefting
- Monogenic short stature
- Osteogenesis imperfecta
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome 146510 to Pallister-Hall syndrome, OMIM:146510
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)GLI3 was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GLI3 were set to Pallister-Hall syndrome 146510
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GLI3 were set to Pallister-Hall syndrome 146510
Added New Source
Sarah Leigh (Genomics England Curator)GLI3 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)GLI3 was created by sleigh