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  3. C2orf71
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Glaucoma (developmental)

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: Imported from Structural eye disease panel version 0.76

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: Imported from Structural eye disease panel version 0.38

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: 1.4

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

C2orf71 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory