This Panel is marked as Internal
Joubert syndrome
Gene: ARL13B
ARL13B (ADP ribosylation factor like GTPase 13B)
EnsemblGeneIds (GRCh38): ENSG00000169379
EnsemblGeneIds (GRCh37): ENSG00000169379
OMIM: 608922, Gene2Phenotype
ARL13B is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000169379
EnsemblGeneIds (GRCh37): ENSG00000169379
OMIM: 608922, Gene2Phenotype
ARL13B is in 17 panels
1 review
Penny Clouston (Oxford)
Evidence from literature. On current diagnostic panel. No positive families to date.Created: 15 Mar 2016, 10:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Joubert syndrome 8
- OMIM
- 608922
- Clinvar variants
- Variants in ARL13B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Ophthalmological ciliopathies
- Renal ciliopathies
- Neurological ciliopathies
- Cystic kidney disease
- Fetal anomalies
- Retinal disorders
- Ocular coloboma
- Skeletal dysplasia
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
15 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)ARL13B was added to Joubert syndromepanel. Sources: Expert Review
15 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)ARL13B was created by PennyC