Genopathy
Gene-Disorder Association · Article
Gene
TMEM107
Transmembrane Protein 107
Disorder
Leukoencephalopathy, Brain Calcifications, And Cysts
First reported 1985
Supporting publications 11
Key publication · disorder Karyotypic characterization of established cell lines and short-term cultures of human lung cancers.Cancer genetics and cytogenetics · 1985
Manually curated
Association Review

In brief

The association between TMEM107 (Transmembrane Protein 107) and Leukoencephalopathy, Brain Calcifications, And Cysts is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 49
Symptoms 41
Compounds 0
Trials 0
Publications 11
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

1 source

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

Request access
03
TMEM107

The gene

1 source summary

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

Request access
04
Leukoencephalopathy, Brain Calcifications, And Cysts

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

30 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

49 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

11 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access