Renal tubulopathies
Gene: RRAGDEnsemblGeneIds (GRCh38): ENSG00000025039
EnsemblGeneIds (GRCh37): ENSG00000025039
OMIM: 608268, Gene2Phenotype
RRAGD is in 4 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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
Eleanor Williams (Genomics England Curator)
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
Detlef Bockenhauer (GOSH-UCL)
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
- PMID: 34607910
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- hypomagnesaemia
- cardiomyopathy
- tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
- OMIM
- 608268
- Clinvar variants
- Variants in RRAGD
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_22_rating was removed from gene: RRAGD. Tag Q3_22_NHS_review was removed from gene: RRAGD.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)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)
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: rragd has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: RRAGD were changed from hypomagnesaemia; cardiomyopathy to hypomagnesaemia; cardiomyopathy; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: RRAGD were set to PMID: 34607910
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_rating tag was added to gene: RRAGD. Tag Q3_22_NHS_review tag was added to gene: RRAGD.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Detlef Bockenhauer (GOSH-UCL)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