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| BabyScreen+ newborn screening v0.1706 | HMGCL | Zornitza Stark Tag metabolic tag was added to gene: HMGCL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.200 | HMGCL | Zornitza Stark Tag treatable tag was added to gene: HMGCL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | HMGCL | Zornitza Stark Marked gene: HMGCL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | HMGCL | Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | HMGCL | Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | HMGCL | John Christodoulou reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | HMGCL |
Zornitza Stark gene: HMGCL was added gene: HMGCL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria, MIM#246450 |
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