Rare multisystem ciliopathy disorders
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
- Expert list
- Other
- Eligibility statement prior genetic testing
- Phenotypes
-
- Joubert syndrome 10
- X-linked Joubert syndrome
- Orofaciodigital syndrome I
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- Complete
- 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
- Ocular coloboma
- Intellectual disability
- 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
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OFD1 were set to Joubert syndrome 10; X-linked Joubert syndrome;Orofaciodigital syndrome I
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OFD1 were set to Joubert syndrome 10;Orofaciodigital syndrome I
Set publications
Ellen McDonagh (Genomics England Curator)Publications for OFD1 were set to 22353940; 19800048
Set Mode of Inheritance
Ellen McDonagh (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)
Set Mode of Inheritance
Ellen McDonagh (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)
Set Mode of Inheritance
Ellen McDonagh (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
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)OFD1 was added to Rare multisystem ciliopathy disorderspanel. Source: Expert list
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene OFD1 were set to Joubert syndrome 10; Orofaciodigital syndrome I (XLD); Simpson-Golabi-Behmel syndrome, type 2 (XLR); ?Retinitis pigmentosa 23 (XLR)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene OFD1 were set to Joubert syndrome 10; Orofaciodigital syndrome I (XLD); Simpson-Golabi-Behmel syndrome, type 2 (XLR)
Upload gene information
Ellen McDonagh (Genomics England Curator)OFD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Other
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model 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)
Created
Ellen McDonagh (Genomics England Curator)OFD1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)OFD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing