Genopathy
Gene-Disorder Association · Article
Gene
LMBR1
Limb Development Membrane Protein 1
Disorder
Hypoplastic Or Aplastic Tibia With Polydactyly
First reported 1995
Supporting publications 8
Key publication · disorder Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome?American journal of medical genetics · 1995
Manually curated
Association Review

In brief

The association between LMBR1 (Limb Development Membrane Protein 1) and Hypoplastic Or Aplastic Tibia With Polydactyly is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 4
Symptoms 6
Compounds 0
Trials 0
Publications 8
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
LMBR1

The gene

1 source summary

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

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04
Hypoplastic Or Aplastic Tibia With Polydactyly

The disorder

7 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

6 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

4 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

8 publications

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

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09
Provenance

References & sources

13 references

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

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