Ophthalmological ciliopathies
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, 12:28 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome 17 and Orofaciodigital syndrome VI.Created: 27 Aug 2016, 9:59 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 Green
- Expert list
- Other
- Phenotypes
-
- Joubert syndrome
- Oral-facial-digital syndrome type VI
- Joubert syndrome 17
- Tags
- OMIM
- 614571
- Clinvar variants
- Variants in C5orf42
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Clefting
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: C5orf42.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: C5orf42 was added gene: C5orf42 was added to Ophthalmological ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C5orf42 were set to 22693042; 25920555; 22425360 Phenotypes for gene: C5orf42 were set to Joubert syndrome; Oral-facial-digital syndrome type VI; Joubert syndrome 17