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| Paediatric or syndromic cardiomyopathy v0.16 | CPS1 | Ivone Leong reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | CPS1 |
Ivone Leong Source Expert Review Red was added to CPS1. Source NHS GMS was added to CPS1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Paediatric or syndromic cardiomyopathy v0.1 | CPS1 |
Ivone Leong gene: CPS1 was added gene: CPS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPS1 were set to 24816252; 27604308 Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) |
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