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Intellectual disability

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 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and as a probable G2P. At least 10 variants reported from 13 centres in ID cases with variable predicted consequences. The phenotype is non-specific ID and therefore appropriate for this panel (and unlikely to be ascertained any other way.)
Created: 19 Dec 2017, 3:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 54 617799

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 54 617799
OMIM
607707
Clinvar variants
Variants in CAMK2B
Penetrance
None
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CAMK2B.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

8 Jan 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CAMK2B were set to Mental retardation, autosomal dominant 54 617799

4 Jan 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

CAMK2B was added to Intellectual disability panel. Sources: Expert Review Green

4 Jan 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

CAMK2B was created by Sarah Leigh