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| Unexplained young onset end-stage renal disease v4.3 | RRAGD | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: RRAGD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.3 | RRAGD | Arina Puzriakova reviewed gene: RRAGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.2 | RRAGD |
Achchuthan Shanmugasundram Source Expert Review Green was added to RRAGD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v3.21 | RRAGD | Achchuthan Shanmugasundram reviewed gene: RRAGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: salt wasting, hypomagnesaemia, cardiomyopathy, nephrocalcinosis, tubular renal disease-cardiomyopathy syndrome, MONDO:0019130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.18 | RRAGD | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: RRAGD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.17 | RRAGD |
Achchuthan Shanmugasundram gene: RRAGD was added gene: RRAGD was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RRAGD were set to salt wasting; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130; cardiomyopathy; hypomagnesaemia; nephrocalcinosis 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 |
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