Skeletal dysplasia
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)

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

Created: 17 Apr 2020, 3:06 a.m.
Last Modified: 17 Apr 2020, 3:06 a.m.
Panel version: Imported from Mendeliome panel version 0.2996

Details

Sources

Expert Review Green
Emory Genetics Laboratory
Victorian Clinical Genetics Services

OMIM

608922

Clinvar variants

Variants in ARL13B

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARL13B was added gene: ARL13B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: ARL13B was set to

Skeletal dysplasia Gene: ARL13B