Activity
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14 actions
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| Intellectual disability v7.41 | CAMK2D | Arina Puzriakova Tag gene-checked tag was added to gene: CAMK2D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.41 | CAMK2D | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: CAMK2D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.41 | CAMK2D | Achchuthan Shanmugasundram commented on gene: CAMK2D: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.40 | CAMK2D |
Achchuthan Shanmugasundram Source NHS GMS was added to CAMK2D. Source Expert Review Green was added to CAMK2D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v6.36 | CAMK2D | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.36 | CAMK2D | Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.36 | CAMK2D | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (seven unrelated cases) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.36 | CAMK2D | Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.36 | CAMK2D | Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.36 | CAMK2D | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (seven unrelated cases) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.36 | CAMK2D | Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.35 | CAMK2D | Achchuthan Shanmugasundram edited their review of gene: CAMK2D: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.35 | CAMK2D | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: CAMK2D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.35 | CAMK2D |
Achchuthan Shanmugasundram gene: CAMK2D was added gene: CAMK2D was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMK2D were set to 38272033 Phenotypes for gene: CAMK2D were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Added comment: PMID:38272033 reported eight unrelated individuals with monoallelic CAMK2D variants and presenting with a neurodevelopmental disorder. Clinical phenotypes include intellectual disability (ID), delayed speech, behavioral problems and dilated cardiomyopathy. The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms. ID was reported in all seven individuals tested for ID, where ID was mild in 2, moderate to severe in 1, severe in 3 and profound in 1 patient. This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM. Sources: Literature |
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