Genopathy
Gene-Disorder Association · Article
Gene
CASK
Calcium/Calmodulin Dependent Serine Protein Kinase
Disorder
Syndromic X-Linked Intellectual Disability Najm Type
First reported 2012
Supporting publications 12
Key publication · gene–disorder Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).Human genetics · 2012
Key publication · disorder Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.Nature genetics · 2008
Manually curated
Association Review

In brief

The association between CASK (Calcium/Calmodulin Dependent Serine Protein Kinase) and Syndromic X-Linked Intellectual Disability Najm Type is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 104
Symptoms 2
Compounds 0
Trials 0
Publications 12
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

2 sources

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

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03
CASK

The gene

1 source summary

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

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04
Syndromic X-Linked Intellectual Disability Najm Type

The disorder

3 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

104 clinical variants

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

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06
Literature

Reading

12 publications

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

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07
Provenance

References & sources

12 references

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

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