Pigmentary skin disorders
Gene: OFD1
OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: OFD1; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Sources
-
- London North GLH
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Terminal osseous dysplasia with pigmentary defects
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- None
- Panels with this gene
-
- Respiratory ciliopathies including non-CF bronchiectasis
- Ophthalmological ciliopathies
- Deafness and congenital structural abnormalities
- Renal ciliopathies
- Skeletal dysplasia
- Osteogenesis imperfecta
- Neurological ciliopathies
- Clefting
- Cystic kidney disease
- Fetal anomalies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Ocular coloboma
- Hydrocephalus
- Intellectual disability
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Limb disorders
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Pigmentary skin disorders
- Glaucoma (developmental)
- DDG2P
- Thoracic dystrophies
- Retinal disorders
- Primary ciliary disorders
History Filter Activity
18 Feb 2019, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to OFD1.
31 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: OFD1 was added gene: OFD1 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: OFD1 was set to Phenotypes for gene: OFD1 were set to Terminal osseous dysplasia with pigmentary defects