Ductal plate malformation

Gene: OFD1

No list

OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 29 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 don't know

I have a patient with OFD1 and abnormal biliary imaging consistent with ductal plate malformation, also evidence in literature
Created: 25 Nov 2018, 9:59 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

biliary dysplasia


History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: OFD1.

30 Nov 2018, Gel status: 0

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Bill Griffiths: I have a patient with OFD1 and

12 Nov 2018, Gel status: 0

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)

6 Nov 2018, Gel status: 3

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)