Genopathy
Gene-Disorder Association · Article
Gene
POMT2
Protein O-Mannosyltransferase 2
Disorder
Congenital Muscular Dystrophy-Dystroglycanopathy Type A
First reported 2018
Key publication · disorder Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2018
Association Review

In brief

The association between POMT2 (Protein O-Mannosyltransferase 2) and Congenital Muscular Dystrophy-Dystroglycanopathy Type A is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 0
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
POMT2

The gene

1 source summary

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

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04
Congenital Muscular Dystrophy-Dystroglycanopathy Type A

The disorder

4 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Provenance

References & sources

2 references

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

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