Rare multisystem ciliopathy disorders
Gene: C2orf71EnsemblGeneIds (GRCh38): ENSG00000179270
EnsemblGeneIds (GRCh37): ENSG00000179270
OMIM: 613425, Gene2Phenotype
C2orf71 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is PCARECreated: 31 May 2018, 3:48 p.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Retinitis pigmentosa is not included in this panelCreated: 23 Jan 2017, 4:15 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Ciliopathies
- Tags
- OMIM
- 613425
- Clinvar variants
- Variants in C2orf71
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Created
Ellen McDonagh (Genomics England Curator)C2orf71 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)C2orf71 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory