TSEN54 and Pontocerebellar Hypoplasia, Type 2e: Association Evidence

At a glance

Association overview

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

Provenance

2 sources

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

TSEN54

1 source summary

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

Pontocerebellar Hypoplasia, Type 2e

16 database identifiers

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

Phenotype

69 clinical features

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

ClinVar and variant evidence

1 clinical variant

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

Mechanism overlap

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

Provenance

8 references

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