Genopathy
Gene-Disorder Association · Article
Gene
ANKRD11
Ankyrin Repeat Domain 11
Disorder
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
First reported 2018
Key publication · disorder Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.Journal of medical genetics · 2018
Association Review

In brief

The association between ANKRD11 (Ankyrin Repeat Domain 11) and Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 5
Symptoms 22
Compounds 0
Trials 0
Publications 0
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
ANKRD11

The gene

1 source summary

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

Request access
04
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

13 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

5 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
Provenance

References & sources

4 references

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

Request access