Genopathy
Gene-Disorder Association · Article
Gene
PNPLA8
Patatin Like Domain 8, Phospholipase A2
Disorder
Mitochondrial Myopathy With Lactic Acidosis
First reported 2015
Supporting publications 7
Key publication · gene–disorder Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.Human mutation · 2015
Key publication · disorder The efflux of magnesium from single crustacean muscle fibres.The Journal of physiology · 1972
Manually curated
Association Review

In brief

The association between PNPLA8 (Patatin Like Domain 8, Phospholipase A2) and Mitochondrial Myopathy With Lactic Acidosis is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 28
Symptoms 47
Compounds 0
Trials 0
Publications 7
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

3 sources

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

Request access
03
PNPLA8

The gene

1 source summary

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

Request access
04
Mitochondrial Myopathy With Lactic Acidosis

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

24 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

28 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

7 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access