This Panel is marked as Deleted
Renal ciliopathies and nephronophthisis_KidGen_VCGS
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
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Green
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Clefting
- Deafness and congenital structural abnormalities
- Ophthalmological ciliopathies
- Retinal disorders
- Ocular coloboma
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Structural eye disease
- Neurological ciliopathies
- Intellectual disability
- Hydrocephalus
- Cystic kidney disease
- Respiratory ciliopathies including non-CF bronchiectasis
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Limb disorders
- Ductal plate malformation
- Pigmentary skin disorders
- Rare multisystem ciliopathy disorders
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: OFD1 was added gene: OFD1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: OFD1 was set to Unknown