Structural eye disease
Gene: OFD1EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.
Panel Version: 3.79
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sarah Leigh (Genomics England Curator)
OFD1 variants have been associated with Joubert syndrome 10 (OMIM:300804) and as definitive Gen2Phen gene for the same condition. Ocular colobomas have been seen in at least four male patients with hemizygous OFD1 variants (PMIDs 28173652;35398350;30895720;28505061) and microphthalmia was seen in one case (PMID: 30895720).Created: 29 Sep 2023, 1:16 p.m. | Last Modified: 29 Sep 2023, 1:16 p.m.
Panel Version: 3.15
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 29 Sep 2023, 12:33 p.m. | Last Modified: 29 Sep 2023, 12:33 p.m.
Panel Version: 3.11
Hannah Knight (NIHR BioResource - University of Cambridge)
PMID: 35398350 report another case with coloboma.
PMID: 30895720 report microphthalmia with microcornea, as well as coloboma.Created: 19 Sep 2023, 12:49 p.m. | Last Modified: 19 Sep 2023, 12:49 p.m.
Panel Version: 3.4
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Joubert syndrome 10, 300804
Publications
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Meng one case with coloboma, many other cases without structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Joubert syndrome 10; ?Retinitis pigmentosa 23; 300804; 300424
Publications
Mode of pathogenicity
Other - please provide details in the comments
Ivone Leong (Genomics England Curator)
Promoted from red to amber based on the expert review provided.Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Meng one case with coloboma, many other cases without structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424
Publications
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Joubert syndrome 10, OMIM:300804
- Joubert syndrome 10, MONDO:0010431
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Retinal disorders
- Clefting
- Ocular coloboma
- Structural eye disease
- Pigmentary skin disorders
- Intellectual disability
- Fetal anomalies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- DDG2P
- Hydrocephalus
- Respiratory ciliopathies including non-CF bronchiectasis
- Osteogenesis imperfecta
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Renal ciliopathies
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: OFD1. Tag Q3_23_NHS_review was removed from gene: OFD1.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to OFD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608; 31373179
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: OFD1 were set to 28173652; 35398350; 30895720
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: OFD1 were changed from ?Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804; X-linked Joubert syndrome; Oral-facial-digital syndrome I to Joubert syndrome 10, OMIM:300804; Joubert syndrome 10, MONDO:0010431
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: OFD1. Tag Q3_23_NHS_review tag was added to gene: OFD1.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: OFD1 were set to 28173652
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to OFD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to OFD1. Mode of inheritance for gene OFD1 was changed from Other - please specifiy in evaluation comments to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes ?Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804 for gene: OFD1 Publications for gene OFD1 were changed from 22353940; 19800048 to 28173652
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: OFD1 was added gene: OFD1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: OFD1 was set to Other - please specifiy in evaluation comments Publications for gene: OFD1 were set to 22353940; 19800048 Phenotypes for gene: OFD1 were set to Oral-facial-digital syndrome I; X-linked Joubert syndrome