Unexplained kidney failure in young people
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
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Details
- Sources
-
- Expert
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 610523
- Clinvar variants
- Variants in CEP41
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Retinal disorders
- Renal ciliopathies
- Neurological ciliopathies
- Skeletal dysplasia
- Limb disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Ocular coloboma
- Unexplained kidney failure in young people
- Ductal plate malformation
- Intellectual disability
- Fetal anomalies
- Structural eye disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
History Filter Activity
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)CEP41 was created by sleigh
16 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)CEP41 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red