Activity
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6 actions
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| Paediatric or syndromic cardiomyopathy v1.67 | LRPPRC | Ivone Leong commented on gene: LRPPRC: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.66 | LRPPRC |
Ivone Leong Source Expert Review Amber was added to LRPPRC. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Paediatric or syndromic cardiomyopathy v0.30 | LRPPRC | Ivone Leong Publications for gene: LRPPRC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | LRPPRC | Ivone Leong commented on gene: LRPPRC: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | LRPPRC | James Eden reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 12529507, 26510951, 22045337, 24399447; Phenotypes: Leigh syndrome, French-Canadian type, 220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.6 | LRPPRC |
Ivone Leong gene: LRPPRC was added gene: LRPPRC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111 |
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