Hereditary ataxia, adult onset
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain REDCreated: 19 Jun 2019, 4:58 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Looking at phenotypes list on OMIM I dont feel that this gene belongs on this panel - clear links to human disease thoughCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Greig syndrome, 175700, Pallister-Hall syndrome, 146510, Polydactyly types A1/B, 174200, Polydactyly type IV, 174700
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Greig syndrome, 175700
- Pallister-Hall syndrome, 146510
- Polydactyly type IV, 174700
- Polydactyly types A1/B, 174200
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- Non-syndromic familial congenital anorectal malformations
- CAKUT
- Pituitary hormone deficiency
- Osteogenesis imperfecta
- Neurological ciliopathies
- Monogenic short stature
- Clefting
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Early onset or syndromic epilepsy
- Fetal anomalies
- Skeletal ciliopathies
- Hydrocephalus
- Unexplained young onset end-stage renal disease - additional genes
- Unexplained kidney failure in young people
- Skeletal dysplasia
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Limb disorders
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- DDG2P
- Hereditary ataxia, adult onset
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Greig syndrome, 175700; Pallister-Hall syndrome, 146510; Polydactyly type IV, 174700; Polydactyly types A1/B, 174200 for gene: GLI3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GLI3.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: GLI3 was added gene: GLI3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GLI3 was set to