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Primary ciliary disorders v1.51 OFD1 Achchuthan Shanmugasundram Classified gene: OFD1 as Green List (high evidence)
Primary ciliary disorders v1.51 OFD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating.
Primary ciliary disorders v1.51 OFD1 Achchuthan Shanmugasundram Gene: ofd1 has been classified as Green List (High Evidence).
Primary ciliary disorders v1.50 OFD1 Achchuthan Shanmugasundram Mode of inheritance for gene: OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary ciliary disorders v1.49 OFD1 Achchuthan Shanmugasundram Publications for gene: OFD1 were set to
Primary ciliary disorders v1.48 OFD1 Achchuthan Shanmugasundram Phenotypes for gene: OFD1 were changed from ciliopathies to Simpson-Golabi-Behmel syndrome, type 2, OMIM:300209; ?Retinitis pigmentosa 23 , OMIM:300424; Joubert syndrome 10, OMIM:300804; Orofaciodigital syndrome I, OMIOM:311200
Primary ciliary disorders v1.47 OFD1 Achchuthan Shanmugasundram reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31366608, 31373179; Phenotypes: Simpson-Golabi-Behmel syndrome, type 2, OMIM:300209, ?Retinitis pigmentosa 23 , OMIM:300424, Joubert syndrome 10, OMIM:300804, Orofaciodigital syndrome I, OMIOM:311200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary ciliary disorders v1.40 OFD1 Amelia Shoemark reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31373179 31366608; Phenotypes: ciliopathies, primary ciliary dyskinesia, joubert; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary ciliary disorders OFD1 Helen Brittain reviewed OFD1