Ocular coloboma
Gene: CEP41EnsemblGeneIds (GRCh38): ENSG00000106477
EnsemblGeneIds (GRCh37): ENSG00000106477
OMIM: 610523, Gene2Phenotype
CEP41 is in 19 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Expert recommendation to leave red as low frequency associationCreated: 18 Jan 2017, 11:37 a.m.
Penny Clouston (Oxford)
On current diagnostic panel; no positive families to date. Evidence from literature.Created: 15 Mar 2016, 2:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert Review
- Phenotypes
-
- Joubert syndrome
- OMIM
- 610523
- Clinvar variants
- Variants in CEP41
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Neurological ciliopathies
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)CEP41 was added to Ocular colobomapanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)CEP41 was added to Ocular colobomapanel. Sources: Expert Review
Created
Ellen McDonagh (Genomics England Curator)CEP41 was created by ellenmcdonagh