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Intellectual disability

Gene: CAMK2G

Red List (low evidence)

CAMK2G (calcium/calmodulin dependent protein kinase II gamma)
EnsemblGeneIds (GRCh38): ENSG00000148660
EnsemblGeneIds (GRCh37): ENSG00000148660
OMIM: 602123, Gene2Phenotype
CAMK2G is in 2 panels

4 reviews

Konstantinos Varvagiannis (Other)

I don't know

PMID: 30184290 reports on 2 individuals, both harboring the same de novo missense variant in CAMK2G [p.(Arg292Pro)]. One of these subjects was previously reported by the same group (PMID: 23033978). The authors provide clinical details on both individuals who presented with hypotonia and severe intellectual disability and additional features (the latter rather specific to each patient). The study focuses on the functional impact of this variant, demonstrating a gain-of-function effect (through increased phosphotransferase activity) and providing evidence for involvement of CAMK2G in neuronal maturation and neurodevelopment.

This gene has been included in ID/ASD panels offered by different diagnostic labs.
Created: 12 Oct 2018, 12:45 p.m.

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

Phenotypes
Generalized hypotonia; Global developmental delay; Intellectual disability

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with phenotype in OMIM or G2P. Reported as a candidate in the quoted publications, with one variant reported in PMID 23033978.
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
  • Expert Review Red
OMIM
602123
Clinvar variants
Variants in CAMK2G
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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.

5 Jan 2018, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene CAMK2G was set to ['26350204', ' 24896178', ' 23033978']

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

Added New Source

Ellen McDonagh (Genomics England Curator)

CAMK2G was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CAMK2G was created by ellenmcdonagh