Genopathy
Gene-Disorder Association · Article
Gene
KIF22
Kinesin Family Member 22
Disorder
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
First reported 2011
Supporting publications 4
Key publication · gene–disorder Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.American journal of human genetics · 2011
Key publication · disorder Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis.Skeletal radiology · 1980
Manually curated
Association Review

In brief

The association between KIF22 (Kinesin Family Member 22) and Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 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 29
Symptoms 92
Compounds 0
Trials 0
Publications 4
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

5 sources

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

Request access
03
KIF22

The gene

1 source summary

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

Request access
04
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

68 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

29 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

4 publications

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

Request access
09
Provenance

References & sources

12 references

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

Request access