Activity
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10 actions
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| Severe microcephaly v2.292 | CAMK2B | Eleanor Williams Tag Q2_21_rating was removed from gene: CAMK2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | CAMK2B | Sarah Leigh commented on gene: CAMK2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | CAMK2B |
Eleanor Williams Source Expert Review Green was added to CAMK2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.173 | CAMK2B | Arina Puzriakova Tag Q2_21_rating tag was added to gene: CAMK2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.173 | CAMK2B | Arina Puzriakova Publications for gene: CAMK2B were set to 32875707 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.172 | CAMK2B | Arina Puzriakova Classified gene: CAMK2B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.172 | CAMK2B |
Arina Puzriakova Added comment: 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. |
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| Severe microcephaly v2.172 | CAMK2B | Arina Puzriakova Gene: camk2b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.171 | CAMK2B | Arina Puzriakova Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, OMIM:617799 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.65 | CAMK2B |
Zornitza Stark 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 Added comment: 5 individuals in review of literature with same de novo monoallelic variant reported with microcephaly Sources: Literature |
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