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Genomic newborn screening: BabyScreen+ v0.1610 PORCN Zornitza Stark Marked gene: PORCN as ready
Genomic newborn screening: BabyScreen+ v0.1610 PORCN Zornitza Stark Gene: porcn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1610 PORCN Zornitza Stark Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia to Focal dermal hypoplasia, MIM#305600
Genomic newborn screening: BabyScreen+ v0.1609 PORCN Zornitza Stark Mode of inheritance for gene: PORCN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1608 PORCN Zornitza Stark Classified gene: PORCN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1608 PORCN Zornitza Stark Gene: porcn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1607 PORCN Zornitza Stark reviewed gene: PORCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM#305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.0 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia