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BabyScreen+ newborn screening v1.48 | COQ6 | Zornitza Stark Marked gene: COQ6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v1.48 | COQ6 | Zornitza Stark Gene: coq6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v1.48 | COQ6 | Zornitza Stark Phenotypes for gene: COQ6 were changed from Nephrotic syndrome with sensorineural deafness; Coenzyme Q10 deficiency, primary, 6, MIM# 614650 to Coenzyme Q10 deficiency, primary, 6, MIM# 614650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v1.47 | COQ6 | Zornitza Stark Classified gene: COQ6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v1.47 | COQ6 | Zornitza Stark Gene: coq6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v1.46 | COQ6 |
Zornitza Stark Tag treatable tag was added to gene: COQ6. Tag metabolic tag was added to gene: COQ6. |
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BabyScreen+ newborn screening v1.46 | COQ6 | Zornitza Stark reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 6 MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.0 | COQ6 |
Zornitza Stark Source Expert Review Red was added to COQ6. Source BabySeq Category C gene was added to COQ6. Added phenotypes Nephrotic syndrome with sensorineural deafness for gene: COQ6 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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BabyScreen+ newborn screening v0.0 | COQ6 |
Zornitza Stark gene: COQ6 was added gene: COQ6 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, MIM# 614650 |