Deafness and congenital structural abnormalities
Gene: OFD1EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green gene on the Familial hemifacial microsomia (Version 0.148) gene panels which was combined to create this panel. No current expert review.Created: 14 Oct 2016, 12:09 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and G2P / DD. At least six variants reported in Orofaciodigital syndrome type 1, 311200.Created: 14 Sep 2016, 8:47 a.m.
Comment on phenotypes: Also associated with Retinitis pigmentosa 23 300424, Joubert syndrome 10 300804, Simpson-Golabi-Behmel syndrome, type 2 300209Created: 14 Sep 2016, 8:44 a.m.
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 Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Orofaciodigital syndrome type 1, 311200
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Fetal anomalies
- Retinal disorders
- Clefting
- Deafness and congenital structural abnormalities
- Pigmentary skin disorders
- Ophthalmological ciliopathies
- Cystic kidney disease
- Renal ciliopathies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Ocular coloboma
- Intellectual disability
- Hydrocephalus
- Childhood onset dystonia, chorea or related movement disorder
- Respiratory ciliopathies including non-CF bronchiectasis
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)OFD1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
clearsources
Ellen McDonagh (Genomics England Curator)OFD1All sources for gene: OFD1 were removed
Added New Source
Sarah Leigh (Genomics England Curator)OFD1 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Green
Added New Source
Sarah Leigh (Genomics England Curator)OFD1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert Review Amber
Created
Sarah Leigh (Genomics England Curator)OFD1 was created by sleigh