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  3. ARL13B
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Fetal anomalies

Gene: ARL13B

Green List (high evidence)
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, 8:40 p.m. | Last Modified: 3 Jun 2020, 8:40 p.m.
Panel Version: 0.79

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 8, MIM# 612291

Publications

Created: 3 Jun 2020, 8:40 p.m.
Last Modified: 3 Jun 2020, 8:40 p.m.
Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.79

History Filter Activity

8 Nov 2021, 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).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARL13B was added gene: ARL13B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL13B were set to 25138100; 18674751; 29255182 Phenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291