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Genomic newborn screening: BabyScreen+ v0.1549 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Genomic newborn screening: BabyScreen+ v0.1549 PHF6 Zornitza Stark Gene: phf6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1549 PHF6 Zornitza Stark edited their review of gene: PHF6: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1549 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from Borjeson-Forssman-Lehmann syndrome to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Genomic newborn screening: BabyScreen+ v0.1548 PHF6 Zornitza Stark Classified gene: PHF6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1548 PHF6 Zornitza Stark Gene: phf6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1547 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; 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 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome