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BabyScreen+ newborn screening v0.474 OFD1 Zornitza Stark Marked gene: OFD1 as ready
BabyScreen+ newborn screening v0.474 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.474 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from Oral-facial-digital syndrome to Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200
BabyScreen+ newborn screening v0.473 OFD1 Zornitza Stark Classified gene: OFD1 as Red List (low evidence)
BabyScreen+ newborn screening v0.473 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.472 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.438 OFD1 David Amor reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome I; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Oral-facial-digital syndrome