Activity

Filter

Cancel
Date Panel Item Activity
2 actions
BabyScreen+ newborn screening v0.0 CPOX Zornitza Stark Source Expert Review Red was added to CPOX.
Source BabySeq Category C gene was added to CPOX.
Mode of inheritance for gene CPOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coproporphyria for gene: CPOX
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 CPOX Zornitza Stark gene: CPOX was added
gene: CPOX was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPOX were set to Coproporphyria , MIM#121300