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Intellectual disability

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 18 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added
Created: 20 Feb 2019, 5:45 p.m.
Comment on publications: Added publications suggested from external expert review to support Green rating
Created: 20 Feb 2019, 5:42 p.m.

Konstantinos Varvagiannis (Other)

Green List (high evidence)

Biallelic pathogenic ARL13B variants cause Joubert syndrome 8 (MIM 612291 - JS). Several individuals from different (at least 5) families have been reported:

PMID: 18674751 is the first report on the disorder (2 families of which one consanguineous).
PMID: 25138100 (the individual was described in detail as patient 3 in PMID: 16541367)
PMID: 29255182 (2 additional families)

All patients reported in these publications presented with intellectual disability.

Most probably further patients have been published in larger JS cohorts.

ARL13B is included in DD/ID panels offered by different diagnostic labs.
Created: 16 Oct 2018, 11:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 2:35 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At 4 least variants reported in 3 unrelated cases
Created: 31 Oct 2017, 9:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

20 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 612291 to Joubert syndrome 8, 612291; Intellectual disability

20 Feb 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ARL13B were set to 18674751; 25138100

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to ARL13B. Panel: Intellectual disability Model of inheritance for gene ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene ARL13B was set to ['18674751', ' 25138100']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARL13B was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARL13B was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen