Genopathy
Gene-Disorder Association · Article
Gene
PAFAH1B1
Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1
Disorder
Chromosome 15q11.2 Deletion Syndrome
First reported 2007
Key publication · disorder Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.Cytogenetic and genome research · 2007
Association Review

In brief

The association between PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1) and Chromosome 15q11.2 Deletion Syndrome is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 82
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
PAFAH1B1

The gene

1 source summary

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

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04
Chromosome 15q11.2 Deletion Syndrome

The disorder

10 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

69 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

7 references

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

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