Ocular coloboma
Gene: C5orf42EnsemblGeneIds (GRCh38): ENSG00000197603
EnsemblGeneIds (GRCh37): ENSG00000197603
OMIM: 614571, Gene2Phenotype
C5orf42 is in 20 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1Created: 21 Mar 2018, 12:30 p.m.
Alice Gardham (Genomics England)
Comment on list classification: Expert recommendation to leave red as low frequency associationCreated: 18 Jan 2017, 11:36 a.m.
Penny Clouston (Oxford)
On current diagnostic panel; positive families within our patient cohort. Evidence from the literature.Created: 15 Mar 2016, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome; Oral-facial-digital syndrome type VI
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
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review
- Phenotypes
-
- Joubert syndrome
- Oral-facial-digital syndrome type VI
- Tags
- OMIM
- 614571
- Clinvar variants
- Variants in C5orf42
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Retinal disorders
- Clefting
- Ocular coloboma
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- DDG2P
- 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
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)C5orf42 was added to Ocular colobomapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)C5orf42 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)C5orf42 was added to Ocular colobomapanel. Sources: Expert Review