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  2. Cystic kidney disease
  3. ARL13B
STRs in panel
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Cystic kidney disease

Gene: ARL13B

Red List (low evidence)
ARL13B (ADP ribosylation factor like GTPase 13B)
EnsemblGeneIds (GRCh38): ENSG00000169379
EnsemblGeneIds (GRCh37): ENSG00000169379
OMIM: 608922, Gene2Phenotype
ARL13B is in 17 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Joubert gene. Not including syndromic genes on this panel.
Created: 10 May 2016, 10:02 a.m.
Created: 10 May 2016, 10:02 a.m.

Panel version: 0.9

Miranda Durkie (Genetics)

Red List (low evidence)

Found in 3 families worldwide
Created: 26 Oct 2015, 5:30 p.m.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 10:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome type 8

Publications

Created: 22 Oct 2015, 10:25 a.m.

Panel version: 0

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

15 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ARL13B was added to Cystic kidney diseasepanel. Sources: Expert