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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) |
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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 |