Laterality disorders and isomerism
Gene: ARL2BP

ARL2BP (ADP ribosylation factor like GTPase 2 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000102931
EnsemblGeneIds (GRCh37): ENSG00000102931
OMIM: 615407, Gene2Phenotype
ARL2BP is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 5 Dec 2024, 9:49 p.m. | Last Modified: 5 Dec 2024, 9:49 p.m.

Panel Version: 3.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Dec 2024, 9:49 p.m.
Last Modified: 5 Dec 2024, 9:49 p.m.
Panel version: 3.20

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

ARL2BP variants have been associated with Retinitis pigmentosa with or without situs inversus (OMIM:615434) and as definitive Gen2Phen gene for Retinitis pigmentosa with or without situs inversus. At least five ARL2BP variants have been reported in unrelated cases of OMIM:615434 (PMID: 23849777; 27790702; 36507858; 38649918). Segregation evidence was presented from two families in PMID: 23849777. Supportive functional studies, together with a mouse model have been reported (PMID: 31425546).
Created: 4 Jun 2024, 2:08 p.m. | Last Modified: 8 Aug 2024, 1:27 p.m.

Panel Version: 3.15

Created: 4 Jun 2024, 2:08 p.m.
Last Modified: 8 Aug 2024, 1:27 p.m.
Panel version: 3.14

Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Green List (high evidence)

Biallelic ARL2BP variants are reported to be associated with Retinitis pigmentosa with or without situs inversus. Situs inversus is reported in several reports including PMID 36507858, 38649918, 23849777. ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. ARL2BP murine knockout model showed similar phenotypes to humans, including retinal degeneration, immotile sperm cells and impaired spermatogenesis, as well as situs inversus and increased brain ventricular volume (PMID: 31425546).
Sources: Literature
Created: 24 May 2024, 12:32 p.m. | Last Modified: 24 May 2024, 12:46 p.m.

Panel Version: 3.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Situs Inversus

Publications

Created: 24 May 2024, 12:32 p.m.
Last Modified: 24 May 2024, 12:46 p.m.
Panel version: 3.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Retinitis pigmentosa with or without situs inversus, OMIM:615434
retinitis pigmentosa with or without situs inversus, MONDO:0014186

OMIM

615407

Clinvar variants

Variants in ARL2BP

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 Dec 2024, Gel status: 3

Removed Tag, Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: ARL2BP. Tag Q2_24_MOI was removed from gene: ARL2BP. Tag Q2_24_NHS_review was removed from gene: ARL2BP.

5 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ARL2BP. Source Expert Review Green was added to ARL2BP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Jun 2024, Gel status: 2