Clefting
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
1 review
Helen Brittain (Genomics England Curator)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
OROFACIODIGITAL SYNDROME I; OFD1
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
- Phenotypes
-
- OROFACIODIGITAL SYNDROME I
- OFD1
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Limb disorders
- Deafness and congenital structural abnormalities
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Pigmentary skin disorders
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Ocular coloboma
- Hydrocephalus
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Renal ciliopathies
- Osteogenesis imperfecta
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Clefting
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)OFD1 was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)OFD1 was created by ellenmcdonagh