Genopathy
Gene-Disorder Association · Article
Gene
ATP1A1-AS1
ATP1A1 Antisense RNA 1
Disorder
Charcot-Marie-Tooth Disease, Axonal, Type 2dd
First reported 2020
Supporting publications 5
Key publication · gene–disorder Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.Clinical genetics · 2020
Key publication · disorder Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.American journal of human genetics · 2018
Manually curated
Association Review

In brief

The association between ATP1A1-AS1 (ATP1A1 Antisense RNA 1) and Charcot-Marie-Tooth Disease, Axonal, Type 2dd is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 20
Symptoms 23
Compounds 0
Trials 0
Publications 5
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

1 source

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

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03
ATP1A1-AS1

The gene

1 source summary

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

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04
Charcot-Marie-Tooth Disease, Axonal, Type 2dd

The disorder

10 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

10 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

20 clinical variants

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

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07
Literature

Reading

5 publications

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

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08
Provenance

References & sources

10 references

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

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