Genopathy
Gene-Disorder Association · Article
Gene
GGT2P
Gamma-Glutamyltransferase 2, Pseudogene
Disorder
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
First reported 1995
Key publication · disorder Hereditary leukoencephalopathy and palmoplantar keratoderma: a new disorder with increased skin collagen content.Neurology · 1995
Association Review

In brief

The association between GGT2P (Gamma-Glutamyltransferase 2, Pseudogene) and Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma 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 100
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
GGT2P

The gene

1 source summary

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

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04
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome

The disorder

14 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
Provenance

References & sources

6 references

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

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