1. Panels
  2. Ductal plate malformation
  3. SEC61B
STRs in panel
Prev Next
Regions in panel
Prev Next

Ductal plate malformation

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)

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

Created: 12 Nov 2018, 1:55 p.m.

Panel version: 1.3

Details

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

History Filter Activity

12 Mar 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Association with polycystic liver disease 1 with or without renal cysts for gene: SEC61B

8 Jan 2019, Gel status: 2

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SEC61B.

30 Nov 2018, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: There are 2 unrelated probands

26 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

26 Nov 2018, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SEC61B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Nov 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SEC61B were set to

12 Nov 2018, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to SEC61B. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 1

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 (VUS) (174050) to Association with polycystic liver disease 1 with or without renal cysts

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

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)