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  2. Structural eye disease
  3. C2orf71
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Structural eye disease

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 11 panels

3 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 54; 613428

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C2orf71 is PCARE
Created: 9 May 2019, 3:17 p.m.
Created: 9 May 2019, 3:17 p.m.

Panel version: 0.75

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 54, 613428

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 54, 613428
  • Eye Disorders
Tags
new-gene-name
OMIM
613425
Clinvar variants
Variants in C2orf71
Penetrance
None
Panels with this gene

History Filter Activity

9 May 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

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

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to C2orf71. Mode of inheritance for gene C2orf71 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 54, 613428 for gene: C2orf71

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: C2orf71 was added gene: C2orf71 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: C2orf71 was set to Phenotypes for gene: C2orf71 were set to Eye Disorders