Activity
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2 actions
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| BabyScreen+ newborn screening v0.0 | PDSS2 |
Zornitza Stark Source Expert Review Red was added to PDSS2. Source BabySeq Category C gene was added to PDSS2. Added phenotypes Leigh syndrome with nephropathy and COQ10 deficiency for gene: PDSS2 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| BabyScreen+ newborn screening v0.0 | PDSS2 |
Zornitza Stark gene: PDSS2 was added gene: PDSS2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, MIM# 614652 |
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