This Panel is marked as Deleted
Arthrogryposis Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- None
- Panels with this gene
-
- Clefting
- Ophthalmological ciliopathies
- Deafness and congenital structural abnormalities
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Skeletal dysplasia
- Retinal disorders
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Structural eye disease
- Neurological ciliopathies
- Hydrocephalus
- Cystic kidney disease
- Respiratory ciliopathies including non-CF bronchiectasis
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Ductal plate malformation
- Pigmentary skin disorders
- Intellectual disability
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)OFD1 was added to Arthrogryposis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)OFD1 was created by Sarah Leigh