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| Renal tubulopathies v3.3 | RRAGD |
Sarah Leigh Tag Q3_22_rating was removed from gene: RRAGD. Tag Q3_22_NHS_review was removed from gene: RRAGD. |
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| Renal tubulopathies v3.3 | RRAGD | Sarah Leigh reviewed gene: RRAGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v3.2 | RRAGD |
Sarah Leigh 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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| Renal tubulopathies v2.62 | RRAGD |
Eleanor Williams changed review comment from: Not associated with a phenotype in OMIM or Gene2Phenotype. As reviewer states PMID: 34607910 (Schlingmann et al 2021) reports 8 cases where patients with hypomagnesaemia were found to have heterozygous (mostly de novo) missense variants in RRAGD. 6 patients also had dilated cardiomyopathy. In addition they report a family with a heterozygous variant in RRAGD that segregated with a kidney phenotype in eight members. Abstract only accessed.; to: Not associated with a phenotype in OMIM or Gene2Phenotype. As reviewer states PMID: 34607910 (Schlingmann et al 2021) reports 8 cases where patients with hypomagnesaemia were found to have heterozygous (mostly de novo) missense variants in RRAGD. 6 patients also had dilated cardiomyopathy. In addition they report a family with a heterozygous variant in RRAGD that segregated with a kidney phenotype in eight members. The age of onset was 6 months to 24 years. |
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| Renal tubulopathies v2.62 | RRAGD |
Eleanor Williams changed review comment from: Not associated with a phenotype in OMIM or Gene2Phenotype. As reviewer states PMID: 34607910 (Schlingmann et al 2021) reports 8 cases where patients with hypomagnesaemia were found to have heterozygous (mostly de novo) missense variants in RRAGD. 6 patients also had dilated cardiomyopathy. In addition they report a family with a heterozygous variant in RRAGD that segregated with a kidney phenotype in eight members.; to: Not associated with a phenotype in OMIM or Gene2Phenotype. As reviewer states PMID: 34607910 (Schlingmann et al 2021) reports 8 cases where patients with hypomagnesaemia were found to have heterozygous (mostly de novo) missense variants in RRAGD. 6 patients also had dilated cardiomyopathy. In addition they report a family with a heterozygous variant in RRAGD that segregated with a kidney phenotype in eight members. Abstract only accessed. |
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| Renal tubulopathies v2.62 | RRAGD | Eleanor Williams Classified gene: RRAGD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.62 | RRAGD | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber but with a recommendation for GREEN rating following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.62 | RRAGD | Eleanor Williams Gene: rragd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.61 | RRAGD | Eleanor Williams commented on gene: RRAGD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.61 | RRAGD | Eleanor Williams Phenotypes for gene: RRAGD were changed from hypomagnesaemia; cardiomyopathy to hypomagnesaemia; cardiomyopathy; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.60 | RRAGD | Eleanor Williams Publications for gene: RRAGD were set to PMID: 34607910 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.59 | RRAGD |
Eleanor Williams Tag Q3_22_rating tag was added to gene: RRAGD. Tag Q3_22_NHS_review tag was added to gene: RRAGD. |
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| Renal tubulopathies v2.54 | RRAGD |
Detlef Bockenhauer gene: RRAGD was added gene: RRAGD was added to Renal tubulopathies. Sources: Literature Mode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAGD were set to PMID: 34607910 Phenotypes for gene: RRAGD were set to hypomagnesaemia; cardiomyopathy Penetrance for gene: RRAGD were set to Complete Mode of pathogenicity for gene: RRAGD was set to Other Review for gene: RRAGD was set to GREEN Added comment: publication from Nov 2021, reporting on 8 unrelated children with a phenotype of hypokalaemia, hypomagnesaemia and dilative cardiomyopathy who had mostly de novo heterozygous variants in RRAGD. Also identified a family where hypomagnesaemia segregated with a heterozygous variant in RRAGD in 8 members. In vitro studies of variants are consistent with a gain-of-function, i.e. mTOR activation Sources: Literature |
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