Genopathy
Gene-Disorder Association · Article
Gene
BRAT1
BRCA1 Associated ATM Activator 1
Disorder
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
First reported 2014
Supporting publications 33
Key publication · gene–disorder Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.Journal of human genetics · 2014
Key publication · disorder Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.American journal of medical genetics · 1980
Manually curated
Association Review

In brief

The association between BRAT1 (BRCA1 Associated ATM Activator 1) and Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 1,125
Symptoms 59
Compounds 0
Trials 0
Publications 33
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

5 sources

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

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03
BRAT1

The gene

1 source summary

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

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04
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal

The disorder

8 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

31 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

1,125 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

33 publications

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

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09
Provenance

References & sources

16 references

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

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