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| Nephrocalcinosis or nephrolithiasis v3.4 | RRAGD |
Sarah Leigh 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. |
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| Nephrocalcinosis or nephrolithiasis v3.4 | RRAGD | Sarah Leigh reviewed gene: RRAGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v3.3 | 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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| Nephrocalcinosis or nephrolithiasis v2.40 | RRAGD | Eleanor Williams Mode of inheritance for gene: RRAGD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.39 | RRAGD | Eleanor Williams Classified gene: RRAGD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.39 | RRAGD | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber but with a recommendation of green rating following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.39 | RRAGD | Eleanor Williams Gene: rragd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.38 | RRAGD |
Eleanor Williams 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. |
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| Nephrocalcinosis or nephrolithiasis v2.38 | RRAGD | Eleanor Williams 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.37 | RRAGD | Eleanor Williams Mode of inheritance for gene: RRAGD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.36 | RRAGD | Eleanor Williams commented on gene: RRAGD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.36 | RRAGD |
Detlef Bockenhauer 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 Added comment: so far only a single paper, but with 9 patients/families Sources: Other |
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