| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Paediatric or syndromic cardiomyopathy v0.16 | SPRED1 | Ivone Leong reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | SPRED1 |
Ivone Leong Source Expert Review Red was added to SPRED1. Source NHS GMS was added to SPRED1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Paediatric or syndromic cardiomyopathy v0.13 | SPRED1 | Matthew Edwards reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Legius syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.4 | SPRED1 |
Ivone Leong gene: SPRED1 was added gene: SPRED1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,Expert List Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPRED1 were set to 19366998; 19443465; 21649642; 21548021; 17704776 Phenotypes for gene: SPRED1 were set to Legius syndrome 611431 |
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