This Panel is marked as Internal
Joubert syndrome
Gene: C5orf42
C5orf42 (chromosome 5 open reading frame 42)
EnsemblGeneIds (GRCh38): ENSG00000197603
EnsemblGeneIds (GRCh37): ENSG00000197603
OMIM: 614571, Gene2Phenotype
C5orf42 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000197603
EnsemblGeneIds (GRCh37): ENSG00000197603
OMIM: 614571, Gene2Phenotype
C5orf42 is in 20 panels
2 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.
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
-
- Phenotypes
-
- Joubert syndrome
- Oral-facial-digital syndrome type VI
- Tags
- OMIM
- 614571
- Clinvar variants
- Variants in C5orf42
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Retinal disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Clefting
- Structural eye disease
- Limb disorders
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Skeletal dysplasia
- Intellectual disability
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- DDG2P
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
15 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)C5orf42 was added to Joubert syndromepanel. Sources: Expert Review
15 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)C5orf42 was created by PennyC