Activity
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4 actions
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| Paediatric or syndromic cardiomyopathy v0.20 | ALMS1 | Ivone Leong Publications for gene: ALMS1 were set to PMID: 15689433 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | ALMS1 | Ivone Leong reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | ALMS1 |
Ivone Leong Source Expert Review Green was added to ALMS1. Source NHS GMS was added to ALMS1. Rating Changed from No List (delete) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v0.13 | ALMS1 |
Rebecca Whittington gene: ALMS1 was added gene: ALMS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to PMID: 15689433 Phenotypes for gene: ALMS1 were set to OMIM 203800 Penetrance for gene: ALMS1 were set to Complete Review for gene: ALMS1 was set to GREEN Added comment: Presentation with congestive cardiac failure within the first 3 months of life is common patients with Alstrom Syndrome. Sources: Expert Review |
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