Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: STIM1

Green List (high evidence)

STIM1 (stromal interaction molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 14 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Updated rating from Amber to Green based on Green rating on 'Neuromuscular arthrogryposis' v0.21 panel.
Created: 26 Nov 2019, 2:22 p.m. | Last Modified: 26 Nov 2019, 2:22 p.m.
Panel Version: 2.60

Sarah Leigh (Genomics England Curator)

Comment on mode of pathogenicity: Monoallelic missense variants consistent with a gain-of-function effect in Myopathy, tubular aggregate, 160565 and Stormorken syndrome 185070
Created: 4 Jan 2018, 1:54 p.m.
Comment on phenotypes: Biallelic variants reported in Immunodeficiency 10 612783
Created: 4 Jan 2018, 1:53 p.m.

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: Not enough evidence to promote to green
Created: 16 Jan 2017, 11:40 a.m.
Comment on mode of pathogenicity: Activating mutations
Created: 22 Dec 2016, 11:11 a.m.
Unable to find documented association with arthrogryposis also listed as causing arthrogryposis on the Guy's panel
Created: 22 Dec 2016, 11:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, tubular aggregate, 1 160565

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, tubular aggregate, 160565
  • Stormorken syndrome 185070
Tags
missense
OMIM
605921
Clinvar variants
Variants in STIM1
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: stim1 has been classified as Green List (High Evidence).

4 Jan 2018, Gel status: 2

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for STIM1 was changed to Other - please provide details in the comments

4 Jan 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 Jan 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for STIM1 were set to Myopathy, tubular aggregate, 160565; Stormorken syndrome 185070

16 Jan 2017, Gel status: 2

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

16 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

22 Dec 2016, Gel status: 2

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for STIM1 was changed to Other - please provide details in the comments

22 Dec 2016, Gel status: 2

Set publications

Alice Gardham (Genomics England)

Publications for STIM1 were set to 23332920

22 Dec 2016, Gel status: 2

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for STIM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

STIM1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STIM1 was created by ellenmcdonagh