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Glaucoma (developmental)

Gene: CC2D2A

Red List (low evidence)

CC2D2A (coiled-coil and C2 domain containing 2A)
EnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 30 panels

2 reviews

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

Green List (high evidence)

DB Gorden et al. 2008: 1 family with coloboma among others with Joubert syndrome/Doherty et al. 2010: 1 family with coloboma and COACH syndrome/Incecik et al. 2012 1 family with coloboma and Joubert syndrome
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome, 216360

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Gorden et al. 2008: 1 family with coloboma among others with Joubert syndrome/Doherty et al. 2010: 1 family with coloboma and COACH syndrome/Incecik et al. 2012 1 family with coloboma and Joubert syndrome
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome, 216360

Publications

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

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)

CC2D2A was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory