Genopathy
Gene-Disorder Association · Article
Gene
AGTPBP1
ATP/GTP Binding Carboxypeptidase 1
Disorder
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
First reported 2012
Supporting publications 1
Key publication · disorder Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.Science translational medicine · 2012
Association Review

In brief

The association between AGTPBP1 (ATP/GTP Binding Carboxypeptidase 1) and Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 59
Compounds 0
Trials 0
Publications 1
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
AGTPBP1

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without 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

2 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

1 publication

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

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09
Provenance

References & sources

5 references

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

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