Nephrocalcinosis or nephrolithiasis
Gene: RRAGD

RRAGD (Ras related GTP binding D)
EnsemblGeneIds (GRCh38): ENSG00000025039
EnsemblGeneIds (GRCh37): ENSG00000025039
OMIM: 608268, Gene2Phenotype
RRAGD is in 4 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 30 Jan 2023, 2:21 p.m.
Last Modified: 30 Jan 2023, 2:21 p.m.
Panel version: 3.4

Eleanor Williams (Genomics England Curator)

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

Created: 28 Sep 2022, 5:58 p.m.
Last Modified: 28 Sep 2022, 5:58 p.m.
Panel version: 2.36

Detlef Bockenhauer (GOSH-UCL)

Green List (high evidence)

so far only a single paper, but with 9 patients/families
Sources: Other
Created: 26 Sep 2022, 4:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypomagnesaemia, nephrocalcinosis, salt wasting, cardiomyopathy

Publications

34607910

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 26 Sep 2022, 4:15 p.m.

Panel version: 2.36

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

hypomagnesaemia
nephrocalcinosis
salt wasting
cardiomyopathy
tubular renal disease-cardiomyopathy syndrome, MONDO:0019130

OMIM

608268

Clinvar variants

Variants in RRAGD

Penetrance

Complete

Publications

34607910

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag, Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

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.

30 Jan 2023, Gel status: 3

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)

28 Sep 2022, Gel status: 2