Genopathy
Gene-Disorder Association · Article
Gene
TRPM6
Transient Receptor Potential Cation Channel Subfamily M Member 6
Disorder
Hypomagnesemia 1, Intestinal
First reported 1997
Supporting publications 10
Key publication · gene–disorder Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint.Human molecular genetics · 1997
Key publication · disorder [The "hypomagnesemic tetany" syndrome. Complete therapeutic results of 6-years electromyographic experience in 500 cases].Revue francaise d'etudes cliniques et biologiques · 1962
Manually curated
Association Review

In brief

The association between TRPM6 (Transient Receptor Potential Cation Channel Subfamily M Member 6) and Hypomagnesemia 1, Intestinal is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 423
Symptoms 7
Compounds 0
Trials 0
Publications 10
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

5 sources

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

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03
TRPM6

The gene

1 source summary

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

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04
Hypomagnesemia 1, Intestinal

The disorder

14 database identifiers

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

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05
Phenotype

Clinical features

5 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

423 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

10 publications

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

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09
Provenance

References & sources

17 references

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

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