Polycystic liver disease interim

Gene: STN1

Amber List (moderate evidence)

STN1 (STN1, CST complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000107960
EnsemblGeneIds (GRCh37): ENSG00000107960
OMIM: 613128, Gene2Phenotype
STN1 is in 11 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

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.
Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that STN1 will remain as an amber gene.
Created: 26 Nov 2018, 2:51 p.m. | Last Modified: 1 Nov 2019, 10:24 a.m.
Panel Version: 0.8
Reported as a probable causative gene for Cerebroretinal microangiopathy with calcifications and cysts 2 on Gene2Phenotype. There are 2 probands born from 2 unrelated families (both are from consanguineous parents) who have the disease and also have liver fibrosis, both are missense variants. Promoted from red to amber
Created: 12 Nov 2018, 1:55 p.m.

Publications

History Filter Activity

15 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: STN1 were changed from Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) to Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341

12 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: stn1 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: STN1 was added gene: STN1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 27432940 Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 (617341)