Rare multisystem ciliopathy disorders
Gene: ARL13BEnsemblGeneIds (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
-
- Other
- Expert Review Green
- Expert list
- Phenotypes
-
- Joubert syndrome 8
- OMIM
- 608922
- Clinvar variants
- Variants in ARL13B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Ocular coloboma
- Intellectual disability
- Cystic kidney disease
- Structural eye disease
- Renal ciliopathies
- Fetal anomalies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- Retinal disorders
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Added New Source
Ellen McDonagh (Genomics England Curator)ARL13B was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ARL13B were set to 18674751; 25138100
Added New Source
Ellen McDonagh (Genomics England Curator)ARL13B was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)ARL13B was created by ellenmcdonagh