This Panel is marked as Retired
Growth failure in early childhood
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
-
- Skeletal ciliopathies
- Neurological ciliopathies
- IUGR and IGF abnormalities
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Intellectual disability
- Monogenic short stature
- Osteogenesis imperfecta
- Clefting
- Hereditary ataxia with onset in adulthood
- Unexplained young onset end-stage renal disease - additional genes
- Hydrocephalus
History Filter Activity
23 Apr 2024, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, OMIM:146510
30 May 2019, Gel status: 1
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to GLI3. Rating Changed from Green List (high evidence) to Red List (low evidence)
14 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GLI3 was added gene: GLI3 was added to Growth failure in early childhood. Sources: Expert Review Green 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