Neurological ciliopathies

Gene: ARL3

No list

ARL3 (ADP ribosylation factor like GTPase 3)
EnsemblGeneIds (GRCh38): ENSG00000138175
EnsemblGeneIds (GRCh37): ENSG00000138175
OMIM: 604695, Gene2Phenotype
ARL3 is in 3 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

4 individuals from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.
Sources: Expert list
Created: 25 May 2020, 2:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 35 MIM#61816

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome 35 MIM#61816
OMIM
604695
Clinvar variants
Variants in ARL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ARL3 was added gene: ARL3 was added to Neurological ciliopathies. Sources: Expert list Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL3 were set to 30269812; 16565502 Phenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#61816 Review for gene: ARL3 was set to GREEN gene: ARL3 was marked as current diagnostic