| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Polycystic liver disease v0.4 | TMEM67 | Ivone Leong Marked gene: TMEM67 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.4 | TMEM67 | 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 | TMEM67 | Ivone Leong Gene: tmem67 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.4 | TMEM67 |
Ivone Leong gene: TMEM67 was added gene: TMEM67 was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM67 were set to 16415887; 28680603; 19058225; 26191240 Phenotypes for gene: TMEM67 were set to Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); congenital hepatic fibrosis; COACH syndrome (216360) |
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