Genopathy
Gene-Disorder Association · Article
Gene
TUBA1A
Tubulin Alpha 1a
Disorder
Tubulinopathy
First reported 2019
Supporting publications 1
Key publication · gene–disorder The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.Orphanet journal of rare diseases · 2019
Key publication · disorder LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.Human molecular genetics · 1998
Manually curated
Association Review

In brief

The association between TUBA1A (Tubulin Alpha 1a) and Tubulinopathy is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 113
Symptoms 0
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

2 sources

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

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03
TUBA1A

The gene

2 source summaries

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

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04
Tubulinopathy

The disorder

2 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

113 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

1 publication

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

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07
Provenance

References & sources

5 references

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

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