Polycystic liver disease interimGene: SEC61B
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 there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Created: 12 Mar 2019, 11:28 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SEC61B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 8 Jan 2019, 9:38 a.m.
Comment when marking as ready: There is currently not enough evidence to promote SEC61B to a green gene; therefore, have applied the 'Watchlist' tag.
Created: 26 Nov 2018, 2:48 p.m.
There are 2 unrelated probands with LOF mutations, which were confirmed with functional studies (cell studies). Therefore promoted from red to amber
Created: 12 Nov 2018, 1:55 p.m.
Phenotypes for gene: SEC61B were changed from Association with polycystic liver disease 1 with or without renal cysts to Association with polycystic liver disease 1 with or without renal cysts; Polycystic liver disease 1, MONDO:0008265
Gene: sec61b has been classified as Amber List (Moderate Evidence).
gene: SEC61B was added gene: SEC61B was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEC61B were set to 28862642 Phenotypes for gene: SEC61B were set to Association with polycystic liver disease 1 with or without renal cysts