Polycystic liver disease interimGene: CC2D2A
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.
Gene: cc2d2a has been classified as Red List (Low Evidence).
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)