Activity
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| Polycystic liver disease v0.4 | CC2D2A | Ivone Leong Marked gene: CC2D2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.4 | CC2D2A | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.4 | CC2D2A | Ivone Leong Gene: cc2d2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.4 | CC2D2A |
Ivone Leong 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) |
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