Polycystic liver disease interim

Gene: SEC61B

Amber List (moderate evidence)

SEC61B (Sec61 translocon beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000106803
EnsemblGeneIds (GRCh37): ENSG00000106803
OMIM: 609214, Gene2Phenotype
SEC61B is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • NHS GMS
  • Literature
  • Expert list
Phenotypes
  • Association with polycystic liver disease 1 with or without renal cysts
  • Polycystic liver disease 1, MONDO:0008265
OMIM
609214
Clinvar variants
Variants in SEC61B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

12 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sec61b has been classified as Amber List (Moderate Evidence).

12 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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