Genopathy
Gene-Disorder Association · Article
Gene
ADARB1
Adenosine Deaminase RNA Specific B1
Disorder
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
First reported 2021
Supporting publications 2
Key publication · gene–disorder Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.Journal of medical genetics · 2021
Key publication · disorder A syndrome of infantile CNS degeneration.American journal of diseases of children (1960) · 1980
Manually curated
Association Review

In brief

The association between ADARB1 (Adenosine Deaminase RNA Specific B1) and Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 17
Symptoms 54
Compounds 0
Trials 0
Publications 2
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

3 sources

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

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03
ADARB1

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures

The disorder

5 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

32 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

17 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

2 publications

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

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09
Provenance

References & sources

7 references

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

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