Limb disorders
Gene: OFD1EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
4 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:09 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed from 'other' as this option captures both monoallelic and biallelic variants in females.Created: 3 Apr 2017, 4:58 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. At least six variants reported Orofaciodigital syndrome I 311200, three in Joubert syndrome 10 300804 and one in Simpson-Golabi-Behmel syndrome, type 2 300209Created: 29 Jul 2016, 11:12 a.m.
Comment on phenotypes: Variant reported in one Retinitis pigmentosa 23 300424 patientCreated: 29 Jul 2016, 11:11 a.m.
Comment on mode of inheritance: Both X-linked recessive and dominantCreated: 29 Jul 2016, 11:10 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
?Retinitis pigmentosa 23 300424 XLR; Joubert syndrome 10 300804; Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
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 Removed
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Expert list
- Radboud University Medical Center, Nijmegen
- UKGTN
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Joubert syndrome 10 300804
- Orofaciodigital syndrome I 311200 XLD
- Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
- Polydactyly
- Tags
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- None
- 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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: OFD1.
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ofd1 has been removed from the panel.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ofd1 has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to OFD1. Rating Changed from Green List (high evidence) to No List (delete)
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to OFD1. Panel: Limb disorders Phenotypes for gene OFD1 were set to Joubert syndrome 10 300804, Orofaciodigital syndrome I 311200 XLD, Simpson-Golabi-Behmel syndrome, type 2 300209 XLR, Polydactyly
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to OFD1. Panel: Limb disorders UKGTN was added to OFD1. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to OFD1. Panel: Limb disorders Expert list was added to OFD1. Panel: Limb disorders Emory Genetics Laboratory was added to OFD1. Panel: Limb disorders 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)
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to OFD1. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)OFD1 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)OFD1 was created by Ellen McDonagh