Genopathy
Gene-Disorder Association · Article
Gene
GPKOW
G-Patch Domain And KOW Motifs
Disorder
Holoprosencephaly-Hypokinesia-Congenital Contractures Syndrome
First reported 2017
Supporting publications 1
Key publication · disorder Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.European journal of human genetics : EJHG · 2017
Manually curated
Association Review

In brief

The association between GPKOW (G-Patch Domain And KOW Motifs) and Holoprosencephaly-Hypokinesia-Congenital Contractures Syndrome is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 1
Symptoms 26
Compounds 0
Trials 0
Publications 1
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

1 source

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

Request access
03
GPKOW

The gene

1 source summary

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

Request access
04
Holoprosencephaly-Hypokinesia-Congenital Contractures Syndrome

The disorder

4 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

1 clinical variant

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

1 publication

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

Request access
09
Provenance

References & sources

6 references

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

Request access