Genes in panel
STRs in panel
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Severe microcephaly

Gene: CAMK2B

No list

CAMK2B (calcium/calmodulin dependent protein kinase II beta)
EnsemblGeneIds (GRCh38): ENSG00000058404
EnsemblGeneIds (GRCh37): ENSG00000058404
OMIM: 607707, Gene2Phenotype
CAMK2B is in 5 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 individuals in review of literature with same de novo monoallelic variant reported with microcephaly
Sources: Literature
Created: 7 Jan 2021, 8:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
microcephaly; intellectual disability; behavioural problems

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • microcephaly
  • intellectual disability
  • behavioural problems
OMIM
607707
Clinvar variants
Variants in CAMK2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: CAMK2B was added gene: CAMK2B was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMK2B were set to 32875707 Phenotypes for gene: CAMK2B were set to microcephaly; intellectual disability; behavioural problems Review for gene: CAMK2B was set to GREEN