Retinal disorders
Gene: CEP41
CEP41 (centrosomal protein 41)
EnsemblGeneIds (GRCh38): ENSG00000106477
EnsemblGeneIds (GRCh37): ENSG00000106477
OMIM: 610523, Gene2Phenotype
CEP41 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000106477
EnsemblGeneIds (GRCh37): ENSG00000106477
OMIM: 610523, Gene2Phenotype
CEP41 is in 19 panels
1 review
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Joubert syndrome (retinopathy?)Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Eye Disorders
- OMIM
- 610523
- Clinvar variants
- Variants in CEP41
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Ophthalmological ciliopathies
- Skeletal dysplasia
- Renal ciliopathies
- Dystonia, chorea or related movement disorder, childhood onset
- Neurological ciliopathies
- Limb disorders
- Cystic kidney disease
- Retinal disorders
- Ocular coloboma
- Unexplained kidney failure in young people
- Ductal plate malformation
- Structural eye disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CEP41.
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CEP41 was created by ellenmcdonagh
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CEP41 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red