Primary ciliary disorders

Gene: OFD1

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating.

Created: 10 Oct 2025, 1:33 p.m. | Last Modified: 10 Oct 2025, 1:33 p.m.

Panel Version: 1.51

OFD1 is a well-established ciliopathy gene. This gene has been associated with multiple relevant phenotypes in OMIM (with either XLD or XLR inheritance). The OMIM records were accessed on 10 October 2025.

PMID:31366608 (2019) reported the identification of four novel hemizygous OFD1 variants (in exons 20 and 21) in male patients with a typical primary ciliary dyskinesia (PCD) presentation but without severe neurological, skeletal or renal symptoms characteristic for other OFD1-related syndromes.

PMID:31373179 (2019) reported three unrelated male patients with PCD, who were identified with hemizygous pathogenic variants in OFD1.

Created: 10 Oct 2025, 1:32 p.m. | Last Modified: 10 Oct 2025, 1:32 p.m.

Panel Version: 1.47

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
Simpson-Golabi-Behmel syndrome, type 2, OMIM:300209; ?Retinitis pigmentosa 23 , OMIM:300424; Joubert syndrome 10, OMIM:300804; Orofaciodigital syndrome I, OMIOM:311200

Publications

• 31366608
• 31373179

Green List (high evidence)

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 clinics

Created: 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

• PMID: 31373179 31366608

Red List (low evidence)

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

Red List (low evidence)

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

Red List (low evidence)

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

• PMID:16783569