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| Paediatric or syndromic cardiomyopathy v4.3 | CAP2 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: CAP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.3 | CAP2 | Sarah Leigh reviewed gene: CAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.2 | CAP2 |
Achchuthan Shanmugasundram Source NHS GMS was added to CAP2. Source Expert Review Green was added to CAP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v3.35 | CAP2 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: CAP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.35 | CAP2 | Achchuthan Shanmugasundram Classified gene: CAP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.35 | CAP2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.35 | CAP2 | Achchuthan Shanmugasundram Gene: cap2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.34 | CAP2 | Achchuthan Shanmugasundram Phenotypes for gene: CAP2 were changed from Cardiomyopathy, dilated, 2I (MIM#620462) to Cardiomyopathy, dilated, 2I, OMIM:620462 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.33 | CAP2 | Achchuthan Shanmugasundram reviewed gene: CAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30518548, 33083013, 34862840; Phenotypes: Cardiomyopathy, dilated, 2I, OMIM:620462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.30 | CAP2 |
Zornitza Stark gene: CAP2 was added gene: CAP2 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAP2 were set to 30518548; 33083013; 34862840 Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462) Review for gene: CAP2 was set to GREEN Added comment: Four individuals from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease. PMID: 33083013: Cheema Homozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested. PMID: 34862840: Gurunathan Homozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected. PMID: 30518548: Aspit Homozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease. Sources: Literature |
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