Ductal plate malformation
Gene: OFD1EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
2 reviews
Ivone Leong (Genomics England Curator)
OFD1 was not promoted from grey to amber despite the review by Bill Griffiths (Cambridge University Hospitals) as OFD1 is already a green gene on the Rare multisystem ciliopathy disorders panel (https://panelapp.genomicsengland.co.uk/panels/150/) If a patient is suspected of having a ciliopathy then the Rare multisystem ciliopathy disorders panel should be applied in addition to this panel for genome analysis.Created: 28 Nov 2018, 10:12 a.m.
Bill Griffiths (Cambridge University Hospitals)
I have a patient with OFD1 and abnormal biliary imaging consistent with ductal plate malformation, also evidence in literatureCreated: 25 Nov 2018, 9:59 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
biliary dysplasia
Publications
- PMID: 20818665
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 Removed
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Orofaciodigital syndrome I (311200)
- Joubert syndrome 10 (300804)
- Tags
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- None
- Panels with this gene
-
- Respiratory ciliopathies including non-CF bronchiectasis
- Ophthalmological ciliopathies
- Deafness and congenital structural abnormalities
- Renal ciliopathies
- Skeletal dysplasia
- Osteogenesis imperfecta
- Neurological ciliopathies
- Clefting
- Cystic kidney disease
- Fetal anomalies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Ocular coloboma
- Hydrocephalus
- Intellectual disability
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Limb disorders
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Pigmentary skin disorders
- Glaucoma (developmental)
- DDG2P
- Thoracic dystrophies
- Retinal disorders
- Primary ciliary disorders
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: OFD1.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Bill Griffiths: I have a patient with OFD1 and
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to OFD1. Rating Changed from Green List (high evidence) to No List (delete)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: OFD1 was added gene: OFD1 was added to Ductal plate malformation (DPM). Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory 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) Phenotypes for gene: OFD1 were set to Orofaciodigital syndrome I (311200); Joubert syndrome 10 (300804)