Primary ciliary disorders

Gene: C2orf71

Red List (low evidence)

C2orf71 (chromosome 2 open reading frame 71)
EnsemblGeneIds (GRCh38): ENSG00000179270
EnsemblGeneIds (GRCh37): ENSG00000179270
OMIM: 613425, Gene2Phenotype
C2orf71 is in 12 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is PCARE
Created: 31 May 2018, 3:49 p.m.

Ian Berry (Leeds Genetics Laboratory)

Red List (low evidence)

Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.
Created: 8 Dec 2015, 5:32 p.m.


Hannah Mitchison (UCL and GOSH)

This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panel
Created: 8 Dec 2015, 4:25 p.m.


History Filter Activity

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C2orf71 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory