Structural eye disease
Gene: ARL6
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
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
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
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