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BabyScreen+ newborn screening v0.1154 | GRHPR | John Christodoulou reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301742; Phenotypes: nephrolithiasis, haematuria, renal colic, obstruction of the urinary tract, Nephrocalcinosis, End-stage renal disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.1122 | GRHPR | Zornitza Stark Phenotypes for gene: GRHPR were changed from Hyperoxaluria, primary, type II to Hyperoxaluria, primary, type II, MIM# 260000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.1121 | GRHPR | Zornitza Stark Marked gene: GRHPR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.1121 | GRHPR | Zornitza Stark Gene: grhpr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.1121 | GRHPR |
Zornitza Stark Tag treatable tag was added to gene: GRHPR. Tag clinical trial tag was added to gene: GRHPR. Tag metabolic tag was added to gene: GRHPR. |
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BabyScreen+ newborn screening v0.1121 | GRHPR | Zornitza Stark reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type II, MIM# 260000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.0 | GRHPR |
Zornitza Stark gene: GRHPR was added gene: GRHPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II |