Retinal disorders

Gene: ARL13B

Green List (high evidence)

Homozygous likely pathogenic variant in WGS data in patient consistent with ophthalmological ciliopathy (where previous R32 testing on local enrichment for green genes was negative). Contact NWGLH for details if required.

Created: 31 Jan 2022, 4:31 p.m. | Last Modified: 31 Jan 2022, 4:31 p.m.

Panel Version: 2.242

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been promoted to Amber and should be promoted to Green at the next review.

Created: 6 Jan 2021, 1:54 p.m. | Last Modified: 6 Jan 2021, 1:54 p.m.

Panel Version: 2.55

Green List (high evidence)

At least three families reported with retinopathy as a feature of the syndrome. An Arl13b null mouse has defects in retinal development with reduced cell proliferation.

Created: 10 Oct 2020, 5:31 a.m. | Last Modified: 10 Oct 2020, 5:31 a.m.

Panel Version: 2.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 8 MIM#612291

Publications

• 18674751
• 30573647
• 25138100
• 29255182

I don't know

three families reported - keep

Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159

I don't know

Reported in 3 cases in OMIM (4 different variants) with association to Joubert syndrome.

Created: 1 Jun 2016, 10:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
JOUBERT SYNDROME 8