Limb disorders
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 for C5orf42 is CPLANE1Created: 9 May 2019, 3:27 p.m.
Eleanor Williams (Genomics England Curator)
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 10:42 p.m.
Details
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Phenotypes
-
- Polydactyly
- Tags
- OMIM
- 614571
- Clinvar variants
- Variants in C5orf42
- Penetrance
- None
- Panels with this gene
-
- Structural eye disease
- Skeletal dysplasia
- 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
- Fetal anomalies
- Ocular coloboma
- Clefting
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: C5orf42.
9 May 2019, Gel status: 0
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: C5orf42.
11 Dec 2018, Gel status: 0
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Comment on list classification
2 Dec 2018, Gel status: 0
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: c5orf42 has been removed from the panel.
2 Dec 2018, Gel status: 0
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: c5orf42 has been removed from the panel.
2 Dec 2018, Gel status: 0
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to C5orf42. Rating Changed from Red List (low evidence) to No List (delete)
13 Aug 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)C5orf42 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
13 Aug 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)C5orf42 was created by Ellen McDonagh