BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: C2orf71

C2orf71 (chromosome 2 open reading frame 71)
EnsemblGeneIds (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 PCARE
Created: 31 May 2018, 3:49 p.m.

Created: 31 May 2018, 3:49 p.m.

Panel version: 0.10

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 54, 613428

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:14 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Retinitis pigmentosa 54, 613428

Tags

new-gene-name

OMIM

613425

Clinvar variants

Variants in C2orf71

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

C2orf71 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

C2orf71 was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE

BRIDGE_SPEED_NEURO_v2.0_20160416 Gene: C2orf71