Syndromic Retinopathy
Gene: ARL3
ARL3 (ADP ribosylation factor like GTPase 3)
EnsemblGeneIds (GRCh38): ENSG00000138175
EnsemblGeneIds (GRCh37): ENSG00000138175
OMIM: 604695, Gene2Phenotype
ARL3 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000138175
EnsemblGeneIds (GRCh37): ENSG00000138175
OMIM: 604695, Gene2Phenotype
ARL3 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
4 patients 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. All reported cases had rod-cone dystrophy. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.
Sources: Expert listCreated: 24 May 2020, 11:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 35 MIM#618161
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Joubert syndrome 35 MIM#618161
- OMIM
- 604695
- Clinvar variants
- Variants in ARL3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
24 May 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: arl3 has been classified as Green List (High Evidence).
24 May 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: arl3 has been classified as Green List (High Evidence).
24 May 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ARL3 was added gene: ARL3 was added to Syndromic Retinopathy. 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#618161 Review for gene: ARL3 was set to GREEN