Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Genomic newborn screening: BabyScreen+ v2.0 NSDHL Gene migrated from ENSG00000147383 to ENSG00000147383 (gene set migration)
Genomic newborn screening: BabyScreen+ v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CK syndrome; CHILD syndrome