This Panel is marked as Deleted
Polydactyly Victorian Clinical Genetics Services
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
1 review
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for C5orf42 is CPLANE1Created: 9 May 2019, 3:27 p.m.
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Tags
- OMIM
- 614571
- Clinvar variants
- Variants in C5orf42
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Retinal disorders
- DDG2P
- Structural eye disease
- Limb disorders
- Ocular coloboma
- Intellectual disability
- Fetal anomalies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Skeletal dysplasia
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Clefting
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
9 May 2019, Gel status: 4
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: C5orf42.
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)C5orf42 was added to Polydactyly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)C5orf42 was created by Sarah Leigh