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Intellectual disability

Gene: CAMK2A

Green List (high evidence)

CAMK2A (calcium/calmodulin dependent protein kinase II alpha)
EnsemblGeneIds (GRCh38): ENSG00000070808
EnsemblGeneIds (GRCh37): ENSG00000070808
OMIM: 114078, Gene2Phenotype
CAMK2A is in 4 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype for the panel
Created: 18 Dec 2017, 2:45 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Not associated with phenotype in OMIM, but as a probable G2P gene. At least 14 variants reported, of which at least 4 have strong evidence for loss of function. Variant and phenotype information from PMID 29100089 - non-dysmorphic neurodevelopmental phenotype characterized by a variable degree of ID. Language development is particularly impaired and behavioral problems are frequent.
Created: 15 Dec 2017, 9:38 a.m.

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

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Intellectual disability
OMIM
114078
Clinvar variants
Variants in CAMK2A
Penetrance
Complete
Publications
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 CAMK2A.

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.

4 Jan 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to CAMK2A. Panel: Intellectual disability Model of inheritance for gene CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene CAMK2A was set to ['26350204', ' 29100089']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CAMK2A was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CAMK2A was added to Intellectual disabilitypanel. Sources: Expert Review Red