This Panel is marked as Internal
Isomerism and laterality disorders
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
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Details
- Sources
-
- UKGTN
- Phenotypes
-
- Primary Ciliary Dyskinesia and Reduced Generation of Multiple Motile Cilia Syndrome
- situs inversus
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Deafness and congenital structural abnormalities
- Clefting
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Hydrocephalus
- Retinal disorders
- Respiratory ciliopathies including non-CF bronchiectasis
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Pigmentary skin disorders
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)OFD1 was added to Isomerism and laterality disorderspanel. Sources: UKGTN
16 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)OFD1 was created by ellenmcdonagh