Thoracic dystrophies
Gene: OFD1EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
3 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases. Expert review greenCreated: 25 May 2017, 12:28 p.m.
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 #311200
Hannah Mitchison (UCL and GOSH)
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
- Emory Genetics Laboratory
- Phenotypes
-
- OROFACIODIGITAL SYNDROME I, OFD1 #311200
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Deafness and congenital structural abnormalities
- Skeletal dysplasia
- Renal ciliopathies
- Neurological ciliopathies
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Ocular coloboma
- Hydrocephalus
- Unexplained kidney failure in young people
- Ductal plate malformation
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Structural eye disease
- Intellectual disability
- DDG2P
- Glaucoma (developmental)
- Clefting
- Thoracic dystrophies
- Respiratory ciliopathies including non-CF bronchiectasis
- Primary ciliary disorders
- Limb disorders
- Cystic kidney disease
- Retinal disorders
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for OFD1 were set to OROFACIODIGITAL SYNDROME I, OFD1 #311200
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)OFD1 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory