Monogenic short stature
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
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Pallister-Hall syndrome, OMIM:146510
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- VACTERL-like phenotypes
- Monogenic hearing loss
- Hereditary ataxia, adult onset
- Ophthalmological ciliopathies
- Non-syndromic familial congenital anorectal malformations
- CAKUT
- Neurological ciliopathies
- Skeletal dysplasia
- Limb disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Dystonia, chorea or related movement disorder, childhood onset
- Clefting
- Osteogenesis imperfecta
- Skeletal ciliopathies
- Hydrocephalus
- Unexplained young onset end-stage renal disease - additional genes
- Pituitary hormone deficiency
- Unexplained kidney failure in young people
- Monogenic short stature
- Fetal anomalies
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- DDG2P
History Filter Activity
7 Aug 2024, Gel status: 1
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, OMIM:146510
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: GLI3 was added gene: GLI3 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLI3 were set to 9054938 Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome