Neurological ciliopathies
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 McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome 8.Created: 27 Aug 2016, 9:52 a.m.
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
-
- Expert Review Green
- Phenotypes
-
- Joubert syndrome 8
- OMIM
- 608922
- Clinvar variants
- Variants in ARL13B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- Ocular coloboma
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
25 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ARL13B was added gene: ARL13B was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL13B were set to 18674751; 25138100 Phenotypes for gene: ARL13B were set to Joubert syndrome 8