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Retinal disorders

Gene: ARL13B

Red List (low evidence)

ARL13B (ADP ribosylation factor like GTPase 13B)
EnsemblGeneIds (GRCh38): ENSG00000169379
EnsemblGeneIds (GRCh37): ENSG00000169379
OMIM: 608922, Gene2Phenotype
ARL13B is in 20 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

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

Ellen McDonagh (Genomics England Curator)

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

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ARL13B.

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARL13B was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ARL13B was created by ellenmcdonagh