Genopathy
Gene-Disorder Association · Article
Gene
BRAT1
BRCA1 Associated ATM Activator 1
Disorder
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
First reported 2022
Supporting publications 11
Key publication · gene–disorder Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.Human mutation · 2022
Key publication · disorder Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.Science translational medicine · 2012
Manually curated
Association Review

In brief

The association between BRAT1 (BRCA1 Associated ATM Activator 1) and Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 61
Symptoms 59
Compounds 0
Trials 0
Publications 11
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

4 sources

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

Request access
03
BRAT1

The gene

1 source summary

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

Request access
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).

Request access
05
Phenotype

Clinical features

32 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

61 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
Literature

Reading

11 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access