This Panel is marked as Internal
Renal and urinary tract disorders
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
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Joubert gene. Not including syndromic genes on this panel.Created: 10 May 2016, 10:02 a.m.
Miranda Durkie (Genetics)
Found in 3 families worldwideCreated: 26 Oct 2015, 5:30 p.m.
No current test experience but this gene is on the list for an extended panel.Created: 22 Oct 2015, 10:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome type 8
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 608922
- Clinvar variants
- Variants in ARL13B
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Ocular coloboma
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: No current test experience but
20 Dec 2018, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: ARL13B
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ARL13B was added gene: ARL13B was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: ARL13B was set to Unknown Phenotypes for gene: ARL13B were set to Ciliopathy genes associated with cystic kidney disease