Genopathy
Gene-Disorder Association · Article
Gene
TNNT1
Troponin T1, Slow Skeletal Type
Disorder
Nemaline Myopathy 5a, Autosomal Recessive, Severe Infantile
First reported 2000
Supporting publications 13
Key publication · gene–disorder A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.American journal of human genetics · 2000
Key publication · disorder Fluorescent thiol reagents. VI. N-(1-Anilinonaphthyl-4)maleimide; a fluorescent hydrophobic probe directed to thiol groups in protein.Biochimica et biophysica acta · 1973
Manually curated
Association Review

In brief

The association between TNNT1 (Troponin T1, Slow Skeletal Type) and Nemaline Myopathy 5a, Autosomal Recessive, Severe Infantile is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 293
Symptoms 40
Compounds 0
Trials 0
Publications 13
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

4 sources

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

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03
TNNT1

The gene

1 source summary

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

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04
Nemaline Myopathy 5a, Autosomal Recessive, Severe Infantile

The disorder

9 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

18 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

293 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

13 publications

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

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09
Provenance

References & sources

15 references

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

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