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DDG2P

Gene: C2orf71

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Added new-gene-name tag, new approved HGNC gene symbol is PCARE.
Created: 19 Nov 2018, 1:31 p.m.
Original DDG2P rating: confirmed. Gene symbol used in Original DD-G2P gene list is PCARE.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETINITIS PIGMENTOSA 54 613428
Tags
new-gene-name
OMIM
613425
Clinvar variants
Variants in C2orf71
Penetrance
None
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag new-gene-name tag was added to gene: C2orf71.

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: C2orf71 was added gene: C2orf71 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54 613428