Nephrocalcinosis or nephrolithiasis
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: 30 Jan 2023, 2:21 p.m. | Last Modified: 30 Jan 2023, 2:21 p.m.
Panel Version: 3.4
Comment on list classification: Promoting this gene from grey to amber but with a recommendation of green rating following GMS review.Created: 28 Sep 2022, 6 p.m. | Last Modified: 28 Sep 2022, 6 p.m.
Panel Version: 2.39
In PMID:34607910 - Schlingmann et al 2021 - six unrelated patients are reported to have nephrocalcinosis as part of their renal phenotype. Additionally in a large family with 8 members with kidney disease, nephrocalcinosis is seen in one of the affected individuals. All variants were heterozygous missense variants.Created: 28 Sep 2022, 5:58 p.m. | Last Modified: 28 Sep 2022, 5:58 p.m.
Panel Version: 2.36
so far only a single paper, but with 9 patients/families
Sources: OtherCreated: 26 Sep 2022, 4:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypomagnesaemia, nephrocalcinosis, salt wasting, cardiomyopathy
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Tag Q3_22_rating was removed from gene: RRAGD. Tag Q3_22_MOI 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)
Mode of inheritance for gene: RRAGD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: rragd has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating tag was added to gene: RRAGD. Tag Q3_22_MOI tag was added to gene: RRAGD. Tag Q3_22_NHS_review tag was added to gene: RRAGD.
Phenotypes for gene: RRAGD were changed from hypomagnesaemia, nephrocalcinosis, salt wasting, cardiomyopathy to hypomagnesaemia; nephrocalcinosis; salt wasting; cardiomyopathy; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
Mode of inheritance for gene: RRAGD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gene: RRAGD was added gene: RRAGD was added to Nephrocalcinosis or nephrolithiasis. Sources: Other 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, nephrocalcinosis, salt wasting, cardiomyopathy Penetrance for gene: RRAGD were set to Complete Mode of pathogenicity for gene: RRAGD was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RRAGD was set to GREEN