Hydrocephalus
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
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Hydrocephalus is not a consistent feature. Identified in zebrafish model but in view of lack of clear link in humans, not for this panel on current evidence.Created: 9 May 2017, 1:22 p.m.
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
Orofaciodigital syndrome I
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
-
- NHS GMS
- Expert Review Red
- Literature
- Phenotypes
-
- Orofaciodigital syndrome I
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- Complete
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Clefting
- Intellectual disability
- Deafness and congenital structural abnormalities
- Pigmentary skin disorders
- Ophthalmological ciliopathies
- Ocular coloboma
- Cystic kidney disease
- Fetal anomalies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Structural eye disease
- Hydrocephalus
- Renal ciliopathies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Respiratory ciliopathies including non-CF bronchiectasis
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Ductal plate malformation
- Limb disorders
- DDG2P
- Retinal disorders
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
29 Jul 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to OFD1.
31 May 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
9 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)OFD1 was added to Hydrocephaluspanel. Source: Expert Review Red
9 May 2017, Gel status: 0
Added New Source
Helen Brittain (Genomics England Curator)OFD1 was added to Hydrocephaluspanel. Sources: Literature
9 May 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)OFD1 was created by helen.brittain