Polycystic liver disease interim

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

1 review

Ivone Leong (Genomics England Curator)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating.
Created: 12 Mar 2019, 1:36 p.m.

History Filter Activity

12 Mar 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cc2d2a has been classified as Red List (Low Evidence).

12 Mar 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: CC2D2A was added gene: CC2D2A was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CC2D2A were set to 19574260; 18513680 Phenotypes for gene: CC2D2A were set to COACH syndrome (216360); congenital hepatic fibrosis; Joubert syndrome 9 (612285); Meckel syndrome 6 (612284)