Retinal disorders
Gene: ARL13B
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
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
three families reported - keepCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
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
Mode of inheritance for gene: ARL13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag for-review was removed from gene: ARL13B.
Source Expert Review Green was added to ARL13B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: arl13b has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ARL13B.
Phenotypes for gene: ARL13B were changed from Eye Disorders to Joubert syndrome 8, OMIM:612291, MONDO:0012855
Publications for gene: ARL13B were set to
Source NHS GMS was added to ARL13B.
ARL13B was created by ellenmcdonagh
ARL13B was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red