Neurological ciliopathies
Gene: OFD1EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
2 reviews
Penny Clouston (Oxford)
On current diagnostic panel; positive families within patient cohort. Evidence from literature.Created: 16 Mar 2016, 9:07 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked Joubert syndrome; Oral-facial-digital syndrome I
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Seems to be X-linked dominant for orofaciodigital syndrome and X-linked recessive for Joubert syndrome, therefore for this combined panel, the default was chosen (monoallelic mutations in females may cause the disorder).Created: 28 Aug 2016, 7:36 a.m.
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for both Orofaciodigital syndrome I and Joubert syndrome 10.
Created: 28 Aug 2016, 7:33 a.m.
Phenotypes and their corresponding mode of inheritance (as indicated in brackets following the phenotype) were sourced from OMIM. XLR = X-linked recessive, XLD = X-linked dominant.Created: 8 Jan 2016, 11:45 a.m.
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
-
- Joubert syndrome 10
- X-linked Joubert syndrome
- Orofaciodigital syndrome I
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Ophthalmological ciliopathies
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Intellectual disability
- Ocular coloboma
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Clefting
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Retinal disorders
- Hydrocephalus
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: OFD1 was added gene: OFD1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OFD1 were set to 19800048; 22353940 Phenotypes for gene: OFD1 were set to Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I