Genopathy
Gene-Disorder Association · Article
Gene
ARL2BP
ARF Like GTPase 2 Binding Protein
Disorder
Retinitis Pigmentosa 82 With Or Without Situs Inversus
First reported 2024
Supporting publications 6
Key publication · gene–disorder A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts.BMC medical genomics · 2024
Key publication · disorder Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.American journal of medical genetics · 1994
Manually curated
Association Review

In brief

The association between ARL2BP (ARF Like GTPase 2 Binding Protein) and Retinitis Pigmentosa 82 With Or Without Situs Inversus is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 8
Symptoms 35
Compounds 0
Trials 0
Publications 6
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
ARL2BP

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Retinitis Pigmentosa 82 With Or Without Situs Inversus

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

12 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

8 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

6 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access