1. Panels
  2. Severe microcephaly
  3. CAMK2B
Genes in panel
Prev Next
STRs in panel
Prev Next

Severe microcephaly

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 4 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Created: 10 Mar 2022, 1:37 p.m.
Last Modified: 10 Mar 2022, 1:37 p.m.
Panel version: 2.292

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Gene added to this panel and rated Green by Zornitza Stark. Variable degree of microcephaly has been reported in 9/13 individuals with CAMK2B variants (PMIDs: 29100089; 29560374; 30842224; 32875707). Severe microcephaly (HC ≤ -3 SD) is reported in at least 4 unrelated individuals.

Overall sufficient cases to rate as Green on this panel. Inclusion may be particularly beneficial for cases with milder degree of DD/ID for which this gene is also Green.
Created: 19 May 2021, 2:44 p.m. | Last Modified: 19 May 2021, 2:44 p.m.
Panel Version: 2.172
Created: 19 May 2021, 2:44 p.m.
Last Modified: 19 May 2021, 2:44 p.m.
Panel version: 2.172

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

Created: 7 Jan 2021, 8:52 a.m.

Panel version: 2.65

Details

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

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: CAMK2B.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to CAMK2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 May 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: CAMK2B.

19 May 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CAMK2B were set to 32875707

19 May 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: camk2b has been classified as Amber List (Moderate Evidence).

19 May 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, OMIM:617799

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