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| Paediatric or syndromic cardiomyopathy v2.6 | RRAGD | Arina Puzriakova Tag Q3_22_rating was removed from gene: RRAGD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v2.6 | RRAGD | Arina Puzriakova reviewed gene: RRAGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v2.5 | RRAGD |
Arina Puzriakova Source Expert Review Green was added to RRAGD. Source NHS GMS was added to RRAGD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v1.77 | RRAGD | Eleanor Williams Tag Q3_22_NHS_review was removed from gene: RRAGD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.77 | RRAGD | Eleanor Williams commented on gene: RRAGD: Copied this gene from the Renal tubulopathies panel. In 6 cases reported in PMID: 34607910 (Schlingmann et al 2021) the probands also had dilated cardiomyopathy. The 6 patients with Dilated cardiomyopathy were diagnosed with the condition at ages between 6 months and 14 years old. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.77 | RRAGD | Eleanor Williams Entity copied from Renal tubulopathies v2.62 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.77 | RRAGD |
Eleanor Williams gene: RRAGD was added gene: RRAGD was added to Cardiomyopathies - including childhood onset. Sources: Literature,Expert Review Amber Q3_22_rating, Q3_22_NHS_review tags were added to gene: RRAGD. Mode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAGD were set to 34607910 Phenotypes for gene: RRAGD were set to hypomagnesaemia; cardiomyopathy; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 Penetrance for gene: RRAGD were set to Complete Mode of pathogenicity for gene: RRAGD was set to Other |
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