Ciliopathies
Gene: OFD1
Well established ciliopathy gene. The severity of the phenotype appears to correlate with a reduction in protein length. Can be XLR and XLD.Created: 11 May 2020, 2:30 a.m. | Last Modified: 11 May 2020, 2:30 a.m.
Panel Version: 0.133
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200
Publications
Gene: ofd1 has been classified as Green List (High Evidence).
Phenotypes for gene: OFD1 were changed from Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200 to Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200
Phenotypes for gene: OFD1 were changed from to Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200
Publications for gene: OFD1 were set to
Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: OFD1 was added gene: OFD1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OFD1 was set to Unknown