Primary ciliary disorders
Gene: OFD1
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. As published here: J Med Genet. 2019 Nov;56(11):769-777 and shown in case studies reported in the literature since. We have identified cases in our clinicsCreated: 11 Nov 2022, 11:53 a.m. | Last Modified: 11 Nov 2022, 11:53 a.m.
Panel Version: 1.40
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ciliopathies; primary ciliary dyskinesia; joubert
Publications
Phenotype not relevant to isomerism / laterality. Excluded on this basis, rather than causation.Created: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Orofaciodigital syndrome; Joubert syndrome
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:33 p.m.
Phenotypes
ciliopathies
None found yet in UK PCD clinics. Listed as a syndromic PCD gene by some, but probably rather this is SGB syndrome type 2. In my view keep on the PCD gene list even as an exclusion gene.Created: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Simpson-Golabi-Behmel syndrome, type 2
Publications
OFD1 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory