Cerebral Palsy
Gene: CAMK2BEnsemblGeneIds (GRCh38): ENSG00000058404
EnsemblGeneIds (GRCh37): ENSG00000058404
OMIM: 607707, Gene2Phenotype
CAMK2B is in 7 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: LiteratureCreated: 27 May 2024, 4:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 54, MIM#617799
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Intellectual developmental disorder, autosomal dominant 54, MIM#617799
- OMIM
- 607707
- Clinvar variants
- Variants in CAMK2B
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: camk2b has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: camk2b has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: CAMK2B was added gene: CAMK2B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMK2B were set to PMID: 38693247 Phenotypes for gene: CAMK2B were set to Intellectual developmental disorder, autosomal dominant 54, MIM#617799 Review for gene: CAMK2B was set to AMBER