Neurological ciliopathiesGene: OFD1
On current diagnostic panel; positive families within patient cohort. Evidence from literature.
Created: 16 Mar 2016, 9:07 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
X-linked Joubert syndrome; Oral-facial-digital syndrome I
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Seems to be X-linked dominant for orofaciodigital syndrome and X-linked recessive for Joubert syndrome, therefore for this combined panel, the default was chosen (monoallelic mutations in females may cause the disorder).
Created: 28 Aug 2016, 7:36 a.m.
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for both Orofaciodigital syndrome I and Joubert syndrome 10.
Created: 28 Aug 2016, 7:33 a.m.
Phenotypes and their corresponding mode of inheritance (as indicated in brackets following the phenotype) were sourced from OMIM. XLR = X-linked recessive, XLD = X-linked dominant.
Created: 8 Jan 2016, 11:45 a.m.
gene: OFD1 was added gene: OFD1 was added to Neurological ciliopathies. Sources: Expert Review Green 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) Publications for gene: OFD1 were set to 19800048; 22353940 Phenotypes for gene: OFD1 were set to Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I