Genopathy
Gene-Disorder Association · Article
Gene
TMEM260
Transmembrane Protein 260
Disorder
Structural Heart Defects And Renal Anomalies Syndrome
First reported 2022
Supporting publications 3
Key publication · gene–disorder Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.Clinical genetics · 2022
Key publication · disorder Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.American journal of human genetics · 2017
Manually curated
Association Review

In brief

The association between TMEM260 (Transmembrane Protein 260) and Structural Heart Defects And Renal Anomalies Syndrome is well established and manually curated, with its 4 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 40
Symptoms 35
Compounds 0
Trials 0
Publications 3
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

4 sources

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

Request access
03
TMEM260

The gene

1 source summary

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

Request access
04
Structural Heart Defects And Renal Anomalies Syndrome

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

23 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

40 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

3 publications

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