Syndromic Retinopathy
Gene: ARL13BEnsemblGeneIds (GRCh38): ENSG00000169379
EnsemblGeneIds (GRCh37): ENSG00000169379
OMIM: 608922, Gene2Phenotype
ARL13B is in 15 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
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.
Sources: Expert listCreated: 21 May 2020, 4:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 8 MIM#612291
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Eight families reported in the literature. Many are homozygous missense variants in consanguineous families with no further supporting evidence, but sufficient number have functional evidence at protein level. Gene has appropriate tissue expression. Zebrafish model: curved tails and cystic kidneys. Hennin mouse model discovered in ENU mutagenesis screen: has polydactyly, ciliary defect, and much more severe neurological phenotype (neural tube defect).Created: 3 Jun 2020, 8:46 p.m. | Last Modified: 3 Jun 2020, 8:46 p.m.
Panel Version: 0.2996
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 8, MIM# 612291
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Joubert syndrome 8 MIM#612291
- OMIM
- 608922
- Clinvar variants
- Variants in ARL13B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: arl13b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: arl13b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ARL13B was added gene: ARL13B was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL13B were set to 18674751; 30573647; 25138100; 29255182 Phenotypes for gene: ARL13B were set to Joubert syndrome 8 MIM#612291 Review for gene: ARL13B was set to GREEN