Rare multisystem ciliopathy disorders
Gene: ARL6EnsemblGeneIds (GRCh38): ENSG00000113966
EnsemblGeneIds (GRCh37): ENSG00000113966
OMIM: 608845, Gene2Phenotype
ARL6 is in 20 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Rated green on the Bardet-Biedl Syndrome version 1 panel.Created: 4 Aug 2016, 3:38 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- Expert list
- Phenotypes
-
- {Bardet‐Biedl syndrome 1, modifier of}
- Bardet‐Biedl syndrome 3
- Bardet-Biedl Syndrome
- 268000
- OMIM
- 608845
- Clinvar variants
- Variants in ARL6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Limb disorders
- Severe early-onset obesity
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Skeletal ciliopathies
- Fetal anomalies
History Filter Activity
Upload gene information
Ellen McDonagh (Genomics England Curator)ARL6 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ARL6 were set to {Bardet‐Biedl syndrome 1, modifier of}; Bardet‐Biedl syndrome 3; Bardet-Biedl Syndrome; 268000
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ARL6 were set to 15258860; 21282186
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ARL6 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)ARL6 was created by ellenmcdonagh