Genopathy
Gene-Disorder Association · Article
Gene
CAMK2B
Calcium/Calmodulin Dependent Protein Kinase II Beta
Disorder
Intellectual Developmental Disorder, Autosomal Dominant 54
First reported 1977
Supporting publications 3
Key publication · disorder An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967.American journal of medical genetics · 1977
Manually curated
Association Review

In brief

The association between CAMK2B (Calcium/Calmodulin Dependent Protein Kinase II Beta) and Intellectual Developmental Disorder, Autosomal Dominant 54 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 47
Symptoms 71
Compounds 0
Trials 0
Publications 3
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

4 sources

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

Request access
03
CAMK2B

The gene

2 source summaries

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

Request access
04
Intellectual Developmental Disorder, Autosomal Dominant 54

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

61 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

47 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

3 publications

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

Request access
09
Provenance

References & sources

10 references

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

Request access