Joubert syndrome

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 19 panels

1 review

Penny Clouston (Oxford)

Green List (high evidence)

Evidence from literature. On current diagnostic panel. No positive families to date.
Created: 15 Mar 2016, 10:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal


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

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

15 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

ARL13B was added to Joubert syndromepanel. Sources: Expert Review

15 Mar 2016, Gel status: 0


Penny Clouston (Oxford)

ARL13B was created by PennyC