Genopathy
Gene-Disorder Association · Article
Gene
GPR161
G Protein-Coupled Receptor 161
Disorder
Medulloblastoma
First reported 2020
Supporting publications 1
Key publication · gene–disorder Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2020
Key publication · disorder Medulloblastoma.Journal of neuropathology and experimental neurology · 1950
Manually curated
Association Review

In brief

The association between GPR161 (G Protein-Coupled Receptor 161) and Medulloblastoma is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis, pathogenic variants, and a susceptibility locus.

Sources 3
Clinical variants 12
Symptoms 40
Compounds 0
Trials 0
Publications 1
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
GPR161

The gene

1 source summary

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

Request access
04
Medulloblastoma

The disorder

24 database identifiers

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

Request access
05
Phenotype

Clinical features

34 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

12 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

1 shared pathway

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

Request access
08
Literature

Reading

1 publication

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

Request access
09
Provenance

References & sources

10 references

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

Request access