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Paediatric or syndromic cardiomyopathy v2.6 | SPRED2 | Arina Puzriakova Tag Q1_22_rating was removed from gene: SPRED2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric or syndromic cardiomyopathy v2.6 | SPRED2 | Arina Puzriakova reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric or syndromic cardiomyopathy v2.5 | SPRED2 |
Arina Puzriakova Source Expert Review Green was added to SPRED2. Source NHS GMS was added to SPRED2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Paediatric or syndromic cardiomyopathy v1.61 | SPRED2 | Ivone Leong Entity copied from Intellectual disability v3.1496 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric or syndromic cardiomyopathy v1.61 | SPRED2 |
Ivone Leong gene: SPRED2 was added gene: SPRED2 was added to Cardiomyopathies - including childhood onset. Sources: Literature,Expert Review Amber Q1_22_rating tags were added to gene: SPRED2. Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRED2 were set to 34626534 Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt |