Structural eye disease
Gene: ARL6EnsemblGeneIds (GRCh38): ENSG00000113966
EnsemblGeneIds (GRCh37): ENSG00000113966
OMIM: 608845, Gene2Phenotype
ARL6 is in 20 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Huang: microphthalmia in Zebrafish, but can't find any evidence in humansCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 55; Bardet-Biedl syndrome 3; {Bardet-Biedl syndrome 1, modifier of}; 613575; 600151; 209900
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Huang: microphthalmia in Zebrafish, but can't find any evidence in humansCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 55, 613575; Bardet-Biedl syndrome 3, 600151; {Bardet-Biedl syndrome 1, modifier of} 209900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Bardet-Biedl syndrome 3, 600151
- {Bardet-Biedl syndrome 1, modifier of} 209900
- Retinitis pigmentosa 55, 613575
- Eye Disorders
- OMIM
- 608845
- Clinvar variants
- Variants in ARL6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal ciliopathies
- Skeletal dysplasia
- Structural eye disease
- Severe early-onset obesity
- Intellectual disability
- Ductal plate malformation
- Bardet Biedl syndrome
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ARL6. Mode of inheritance for gene ARL6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 3, 600151; {Bardet-Biedl syndrome 1, modifier of} 209900; Retinitis pigmentosa 55, 613575 for gene: ARL6 Publications for gene ARL6 were changed from to 19097054
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ARL6 was added gene: ARL6 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ARL6 was set to Phenotypes for gene: ARL6 were set to Eye Disorders