Ductal plate malformation
Gene: SEC61B
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 givenCreated: 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 amberCreated: 12 Nov 2018, 1:55 p.m.
Publications
Added phenotypes Association with polycystic liver disease 1 with or without renal cysts for gene: SEC61B
Source NHS GMS was added to SEC61B.
Ivone Leong: There are 2 unrelated probands
Gene: sec61b has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: SEC61B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEC61B were set to
Source Expert Review Amber was added to SEC61B. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Phenotypes for gene: SEC61B were changed from Association with polycystic liver disease 1 with or without renal cysts (VUS) (174050) to Association with polycystic liver disease 1 with or without renal cysts
gene: SEC61B was added gene: SEC61B was added to Ductal plate malformation (DPM). Sources: Expert list,Literature Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEC61B were set to Association with polycystic liver disease 1 with or without renal cysts (VUS) (174050)