Genopathy
Gene-Disorder Association · Article
Gene
PAFAH1B1
Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1
Disorder
Lissencephaly Due To Lis1 Mutation
First reported 1997
Supporting publications 14
Key publication · gene–disorder Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.Human molecular genetics · 1997
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 PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1) and Lissencephaly Due To Lis1 Mutation is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 138
Symptoms 47
Compounds 0
Trials 0
Publications 14
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

3 sources

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

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03
PAFAH1B1

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
ClinVar and variant evidence

Genetic basis

138 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

14 publications

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

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09
Provenance

References & sources

14 references

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

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