Cystic kidney disease

Gene: OFD1

Red List (low evidence)

PMCID 11403091 identified one case where the individual presents with a non-syndromic form of renal cysts. Of note the other case reported previously reviewed PMID: 10910455 appears to be a syndromic form, therefore we can only count the one case and recommend remain amber.

Created: 29 Sep 2026, 12:43 p.m. | Last Modified: 29 Sep 2026, 12:43 p.m.

Panel Version: 9.3

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
cystic renal disease

Publications

• PMCID: 11403091

I don't know

Comment on list classification: Although renal cysts are present in around half of the cases reported in PMID:11179005 (and associated with Orofaciodigital syndrome I, MIM #311200), they are syndromic.

As reviewed by Nour Elkhateeb, female patient reported in PMID:10910455 had renal cysts are the only apparent manifestation.

Hence, this gene can be promoted from red to amber with the current evidence.

Created: 26 Jun 2024, 1:02 p.m. | Last Modified: 26 Jun 2024, 1:03 p.m.

Panel Version: 5.8

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

OFD1 appears to be highly penetrant, although highly variable in expression. In some reports, renal cysts are the only apparent manifestation in affected females. PMID: 10910455.

Created: 15 Feb 2024, 3:11 p.m. | Last Modified: 15 Feb 2024, 3:14 p.m.

Panel Version: 4.24

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
renal cysts

Publications

• PMID: 10910455

Comment on list classification: Syndromic - not relevant for this panel.

Created: 10 May 2016, 12:28 p.m.

Green List (high evidence)

No current test experience but this gene is on the list for an extended panel.

Created: 22 Oct 2015, 12:16 p.m.

Phenotypes
Oral-facial-digital syndrome 1; Joubert syndrome

Publications

• 11179005