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Intellectual disability syndromic and non-syndromic

Gene: CAMK2B

Green List (high evidence)

CAMK2B (calcium/calmodulin dependent protein kinase II beta)
EnsemblGeneIds (GRCh38): ENSG00000058404
EnsemblGeneIds (GRCh37): ENSG00000058404
OMIM: 607707, Gene2Phenotype
CAMK2B is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated individuals reported.
Created: 4 Jan 2021, 7:22 a.m. | Last Modified: 4 Jan 2021, 7:22 a.m.
Panel Version: 0.3368

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 54, MIM# 617799

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal dominant 54, MIM# 617799
OMIM
607707
Clinvar variants
Variants in CAMK2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: camk2b has been classified as Green List (High Evidence).

4 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CAMK2B were changed from to Mental retardation, autosomal dominant 54, MIM# 617799

4 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CAMK2B were set to

4 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CAMK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CAMK2B was added gene: CAMK2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CAMK2B was set to Unknown