Genopathy
Gene-Disorder Association · Article
Gene
SLC25A22
Solute Carrier Family 25 Member 22
Disorder
Lissencephaly Due To Lis1 Mutation
First reported 1982
Key publication · disorder Isolation and partial characterization of the sialoglycoprotein fraction of murine erythrocyte ghosts.The Journal of cell biology · 1982
Manually curated
Association Review

In brief

The association between SLC25A22 (Solute Carrier Family 25 Member 22) and Lissencephaly Due To Lis1 Mutation is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 47
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
SLC25A22

The gene

1 source summary

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

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04
Lissencephaly Due To Lis1 Mutation

The disorder

5 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

44 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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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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