Pituitary hormone deficiency
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
1 review
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 12:03 p.m.
Comment on list classification: Promoted from amber to green. GLI3 is confirmed to be associated with Pallister Hall syndrome in OMIM and Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with Pallister Hall syndrome with growth hormone deficiency who have variants in the GLI3 gene.Created: 10 Dec 2018, 4:22 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center
- Emory Genetics Laboratory
- Phenotypes
-
- Greig cephalopolysyndactyly syndrome, OMIM:175700
- Pallister-Hall syndrome, OMIM:146510
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- None
- Publications
- 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 Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510) to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Comment on list classification
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: gli3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: gli3 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: GLI3 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GLI3 was added gene: GLI3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510)