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Ciliary Dyskinesia v0.121 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209 to Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Primary ciliary dyskinesia
Ciliary Dyskinesia v0.120 OFD1 Zornitza Stark Classified gene: OFD1 as Green List (high evidence)
Ciliary Dyskinesia v0.120 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.119 OFD1 Zornitza Stark changed review comment from: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel. However, note 3 individuals reported with PCD phenotype.; to: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel. However, note 7 individuals reported with PCD phenotype.
Ciliary Dyskinesia v0.119 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed rating: GREEN
Ciliary Dyskinesia v0.119 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed publications: 31366608, 31373179
Ciliary Dyskinesia v0.119 OFD1 Zornitza Stark Classified gene: OFD1 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.119 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.118 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed publications: 31373179
Ciliary Dyskinesia v0.118 OFD1 Zornitza Stark changed review comment from: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel.; to: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel. However, note 3 individuals reported with PCD phenotype.
Ciliary Dyskinesia v0.118 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200, Primary ciliary dyskinesia
Ciliary Dyskinesia v0.118 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed rating: AMBER
Ciliary Dyskinesia v0.72 OFD1 Zornitza Stark Classified gene: OFD1 as Red List (low evidence)
Ciliary Dyskinesia v0.72 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.71 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
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209
Ciliary Dyskinesia v0.28 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Ciliary Dyskinesia v0.27 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ciliary Dyskinesia v0.27 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32276433, 31373179; Phenotypes: Joubert syndrome 10, MIM 300804, Orofaciodigital syndrome I, MIM 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao Deleted their review
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao commented on gene: OFD1
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao Deleted their review
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31373179, 31373179; Phenotypes: Joubert syndrome 10, MIN 300804, Orofaciodigital syndrome I, MIN 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Ciliary Dyskinesia v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OFD1 was set to Unknown