Renal tubulopathies
Gene: RRAGD
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 12:39 p.m. | Last Modified: 31 Jan 2023, 12:39 p.m.
Panel Version: 3.3
Comment on list classification: Promoting from grey to amber but with a recommendation for GREEN rating following GMS review.Created: 2 Aug 2022, 10:35 p.m. | Last Modified: 2 Aug 2022, 10:35 p.m.
Panel Version: 2.62
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.Created: 2 Aug 2022, 10:34 p.m. | Last Modified: 14 Aug 2022, 9:10 p.m.
Panel Version: 2.62
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: LiteratureCreated: 7 Jul 2022, 9:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypomagnesaemia; cardiomyopathy
Publications
Mode of pathogenicity
Other
Tag Q3_22_rating was removed from gene: RRAGD. Tag Q3_22_NHS_review was removed from gene: RRAGD.
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)
Gene: rragd has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RRAGD were changed from hypomagnesaemia; cardiomyopathy to hypomagnesaemia; cardiomyopathy; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
Publications for gene: RRAGD were set to PMID: 34607910
Tag Q3_22_rating tag was added to gene: RRAGD. Tag Q3_22_NHS_review tag was added to gene: RRAGD.
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