Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: OFD1EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and Red rating from Kate Tatton-Brown April 2017: Although unequivocally an OMIM morbid gene, I don't think OFD1 would be considered an overgrowth geneCreated: 31 May 2019, 11:17 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed with reviewer.Created: 29 Mar 2016, 3:48 p.m.
Comment on mode of inheritance: Should this be biallelic in females? (X-linked recessive).Created: 29 Mar 2016, 1:37 p.m.
Comment on list classification: Richard Scott (North Thames GMC/UCL) therefore promoted to green from red. It is a confirmed DD gene for Simpson-Golabi-Behmel syndrome.Created: 29 Mar 2016, 1:36 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Oral-facial-digital syndrome 1, 311200
- Simpson-Golabi-Behmel syndrome, type 2, 300209
- Joubert syndrome 10, 300804
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Clefting
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Limb disorders
- Deafness and congenital structural abnormalities
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Pigmentary skin disorders
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Ocular coloboma
- Hydrocephalus
- Retinal disorders
- Unexplained kidney failure in young people
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Renal ciliopathies
- Osteogenesis imperfecta
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: OFD1 were set to PMID: 23036093
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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).
Created
Ellen McDonagh (Genomics England Curator)OFD1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)OFD1 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen, Expert Review Green