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BabyScreen+ newborn screening v0.0 CACNA1D Zornitza Stark Source Expert Review Red was added to CACNA1D.
Source BabySeq Category C gene was added to CACNA1D.
Mode of inheritance for gene CACNA1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sinoatrial node dysfunction and deafness for gene: CACNA1D
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1D were set to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474