Skeletal ciliopathies
Gene: ARL6
ARL6 (ADP ribosylation factor like GTPase 6)
EnsemblGeneIds (GRCh38): ENSG00000113966
EnsemblGeneIds (GRCh37): ENSG00000113966
OMIM: 608845, Gene2Phenotype
ARL6 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000113966
EnsemblGeneIds (GRCh37): ENSG00000113966
OMIM: 608845, Gene2Phenotype
ARL6 is in 20 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)Created: 28 Nov 2019, 3:24 p.m. | Last Modified: 28 Nov 2019, 3:24 p.m.
Panel Version: 0.22
Polydactyly/Brachydactyly phenotype in Bardet-Biedl syndrome 3Created: 11 Jul 2019, 12:59 p.m. | Last Modified: 11 Jul 2019, 12:59 p.m.
Panel Version: 0.5
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
-
- Expert Review Removed
- Eligibility statement prior genetic testing
- Expert list
- Phenotypes
-
- {Bardet Biedl syndrome 1, modifier of}
- Bardet-Biedl Syndrome
- 268000
- Bardet Biedl syndrome 3
- Tags
- OMIM
- 608845
- Clinvar variants
- Variants in ARL6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Intellectual disability
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: ARL6.
28 Nov 2019, Gel status: 0
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: arl6 has been removed from the panel.
10 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ARL6 was added gene: ARL6 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6 were set to 15258860; 21282186 Phenotypes for gene: ARL6 were set to {Bardet Biedl syndrome 1, modifier of}; Bardet-Biedl Syndrome; 268000; Bardet Biedl syndrome 3