Ductal plate malformation
Gene: OFD1OFD1 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.
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
Tag curated_removed tag was added to gene: OFD1.
Bill Griffiths: I have a patient with OFD1 and
Source Expert Review Removed was added to OFD1. Rating Changed from Green List (high evidence) to No List (delete)
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)