Glaucoma (developmental)

Gene: ARL6

Red List (low evidence)

Huang: microphthalmia in Zebrafish, but can't find any evidence in humans

Created: 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

• 19097054

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Huang: microphthalmia in Zebrafish, but can't find any evidence in humans

Created: 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

• 19097054

Variants in this GENE are reported as part of current diagnostic practice