Joubert syndrome

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 28 panels

2 reviews

Penny Clouston (Oxford)

Green List (high evidence)

Positives within our diagnostic patient cohort. Evidence in literature.
Created: 15 Mar 2016, 10:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Ellen McDonagh (Genomics England Curator)

Relevant phenotype and mode of inheritance was sourced from OMIM.
Created: 8 Jan 2016, 11:36 a.m.

History Filter Activity

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CC2D2A were set to Joubert syndrome 9

8 Jan 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

CC2D2A was added to Joubert syndromepanel. Sources: Other

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CC2D2A were set to Joubert syndrome 9; Meckel syndrome 6; COACH syndrome

8 Jan 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal

7 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CC2D2A was created by ellenmcdonagh

7 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CC2D2A was added to Joubert syndromepanel. Sources: Eligibility statement prior genetic testing