Unexplained kidney failure in young people
Gene: OFD1EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
2 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
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
- UKGTN
- Expert Review
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Joubert syndrome 10 300804
- Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hydrocephalus
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Clefting
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: OFD1 were changed from Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR to Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for OFD1 were set to Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)OFD1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review,Radboud University Medical Center, Nijmegen,UKGTN
clearsources
Sarah Leigh (Genomics England Curator)OFD1All sources for gene: OFD1 were removed
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for OFD1 were set to 16783569; 15221448; 11179005
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for OFD1 were set to Ckd, usually with facial and digital anomalies, but these may be missed; Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Upload gene information
Sarah Leigh (Genomics England Curator)OFD1 was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Created
Sarah Leigh (Genomics England Curator)OFD1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)OFD1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red