Cystic kidney disease
Gene: OFD1EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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)
Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)
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
Ellen Thomas (Genomics England Curator)
Comment on list classification: Syndromic - not relevant for this panel.Created: 10 May 2016, 12:28 p.m.
Miranda Durkie (Genetics)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Amber
- Expert
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural eye disease
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Fetal anomalies
- Ocular coloboma
- Clefting
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Hydrocephalus
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: OFD1 were set to
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)OFD1 was added to Cystic kidney diseasepanel. Sources: Expert