Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: ARL2BP

Green List (high evidence)

ARL2BP (ADP ribosylation factor like GTPase 2 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000102931
EnsemblGeneIds (GRCh37): ENSG00000102931
OMIM: 615407, Gene2Phenotype
ARL2BP is in 4 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

This gene-disease association is characterized by initial loss of rod photoreceptors, resulting in impaired night vision followed by progressive visual field constriction as both rod and cone photoreceptors die. Affected individuals present with or without situs inversus however non syndromic RP or ocular-like phenotypes are rare.

PMID: 27790702 - only one family (two sibs) have reported with only rod cone dystrophy without any other features with chet variants in this gene.
Created: 15 May 2025, 11:36 p.m. | Last Modified: 15 May 2025, 11:36 p.m.
Panel Version: 0.159

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 82 with or without situs inversus MIM#615434

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa with or without situs inversus, 615434
OMIM
615407
Clinvar variants
Variants in ARL2BP
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARL2BP was added gene: ARL2BP was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL2BP were set to Retinitis pigmentosa with or without situs inversus, 615434