Renal and urinary tract disorders
Gene: OFD1EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
4 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. At least three variants reported in Joubert syndrome 10 300804 and one in Simpson-Golabi-Behmel syndrome, type 2 300209Created: 5 Aug 2016, 8:45 a.m.
Comment on phenotypes: Also associated with Retinitis pigmentosa 23 300424 XLR and Orofaciodigital syndrome I 311200 XLDCreated: 5 Aug 2016, 8:41 a.m.
Comment on list classification: Based on review by Fiona Karet that this gene is used diagnostically
Created: 5 Jul 2016, 12:50 p.m.
Fiona Karet (Universit y of Cambridge)
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
Ckd, usually with facial and digital anomalies, but these may be missed.
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Syndromic - not relevant for this panel.Created: 10 May 2016, 12:28 p.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:16 p.m.
Phenotypes
Oral-facial-digital syndrome 1; Joubert syndrome
Publications
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 300804
- Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Deafness and congenital structural abnormalities
- Clefting
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Hydrocephalus
- Retinal disorders
- Respiratory ciliopathies including non-CF bronchiectasis
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Pigmentary skin disorders
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: No current test experience but
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: OFD1 were changed from Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 to Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 for gene: OFD1 Publications for gene OFD1 were changed from to 16783569; 15221448; 11179005
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: OFD1 was added gene: OFD1 was added to Renal and urinary tract disorders. 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)