Severe microcephaly
Gene: CAMK2BThe 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
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
5 individuals in review of literature with same de novo monoallelic variant reported with microcephaly
Sources: LiteratureCreated: 7 Jan 2021, 8:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
microcephaly; intellectual disability; behavioural problems
Publications
Tag Q2_21_rating was removed from gene: CAMK2B.
Source Expert Review Green was added to CAMK2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: CAMK2B.
Publications for gene: CAMK2B were set to 32875707
Gene: camk2b has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, OMIM:617799
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