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Fetal anomalies v0.4640 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Fetal anomalies v0.4640 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4640 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2; JOUBERT SYNDROME TYPE 10; ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 to Orofaciodigital syndrome I, MIM# 311200; Joubert syndrome 10, MIM# 300804
Fetal anomalies v0.4639 OFD1 Zornitza Stark changed review comment from: XLD. Polydactyly is a rare feature. Primarily facial/neurological features.; to: Well established gene-disease associations, multiple congenital anomalies.
Fetal anomalies v0.4639 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed phenotypes: Orofaciodigital syndrome I, MIM# 311200, Joubert syndrome 10, MIM# 300804
Fetal anomalies v0.4639 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed rating: GREEN; Changed phenotypes: Orofaciodigital syndrome I, MIM# 311200, Joubert syndrome 10 300804; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OFD1 were set to SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2; JOUBERT SYNDROME TYPE 10; ORAL-FACIAL-DIGITAL SYNDROME TYPE 1