Activity
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17 actions
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| Paediatric or syndromic cardiomyopathy v5.13 | CAMK2D | Arina Puzriakova Tag gene-checked tag was added to gene: CAMK2D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.12 | CAMK2D | Eleanor Williams Tag Q2_24_promote_green was removed from gene: CAMK2D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.12 | CAMK2D | Eleanor Williams reviewed gene: CAMK2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.11 | CAMK2D |
Eleanor Williams 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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| Paediatric or syndromic cardiomyopathy v4.10 | CAMK2D | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.10 | CAMK2D | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.10 | CAMK2D | Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.10 | CAMK2D | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six with DCM, four of six with age below 12 years, and functional evidence) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.10 | CAMK2D | Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.9 | CAMK2D | Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.9 | CAMK2D | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six with DCM, four of six with age below 12 years, and functional evidence) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.9 | CAMK2D | Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.9 | CAMK2D | Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.9 | CAMK2D | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six with DCM, four of six with age below 12 years, and functional evidence) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.9 | CAMK2D | Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.8 | CAMK2D |
Achchuthan Shanmugasundram changed review comment from: 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. Dilated cardiomyopathy was reported in six of eight reported cases and their age ranged from five weeks to 20 years (with four of six DCM patients with age below 12 years). This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM. Sources: Literature; to: 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. Dilated cardiomyopathy was reported in six of eight reported cases and their age ranged from five weeks to 20 years (four of six DCM patients with age below 12 years). 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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| Paediatric or syndromic cardiomyopathy v4.8 | CAMK2D |
Achchuthan Shanmugasundram gene: CAMK2D was added gene: CAMK2D was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Q2_24_promote_green tags were added to gene: CAMK2D. 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; dilated cardiomyopathy, MONDO:0005021 Mode of pathogenicity for gene: CAMK2D was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CAMK2D was set to GREEN 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. Dilated cardiomyopathy was reported in six of eight reported cases and their age ranged from five weeks to 20 years (with four of six DCM patients with age below 12 years). 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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