Osteogenesis imperfecta
Gene: OFD1
OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
2 reviews
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Oral-Facial-Digital Syndrome
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- Complete
- Panels with this gene
-
- Hydrocephalus
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- 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
- Ocular coloboma
- Clefting
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
History Filter Activity
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)OFD1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory