Ataxia - paediatric
Gene: ARL13B

ARL13B (ADP ribosylation factor like GTPase 13B)
EnsemblGeneIds (GRCh38): ENSG00000169379
EnsemblGeneIds (GRCh37): ENSG00000169379
OMIM: 608922, Gene2Phenotype
ARL13B is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ataxia is part of the phenotype.
Created: 17 Apr 2020, 3:06 a.m. | Last Modified: 17 Apr 2020, 3:06 a.m.

Panel Version: 0.175

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 8, MIM# 612291

Created: 17 Apr 2020, 3:06 a.m.
Last Modified: 17 Apr 2020, 3:06 a.m.
Panel version: 0.175

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Joubert syndrome 8, MIM# 612291

OMIM

608922

Clinvar variants

Variants in ARL13B

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arl13b has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 to Joubert syndrome 8, MIM# 612291

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARL13B was added gene: ARL13B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL13B were set to Joubert syndrome 8

Ataxia - paediatric Gene: ARL13B