Limb girdle muscular dystrophy

Gene: STIM1

Green List (high evidence)

STIM1 (stromal interaction molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 12 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Green based on review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 4:13 p.m. | Last Modified: 28 Nov 2019, 4:13 p.m.
Panel Version: 1.110

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

new gene added. Currently provided as part of our LGMD panel at HSS LGMD in Ncl.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Louise Daugherty (Genomics England Curator)

I don't know

New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Created: 21 Oct 2019, 10:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myopathy, tubular aggregate, 1, 160565

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Myopathy, tubular aggregate, 1, 160565
OMIM
605921
Clinvar variants
Variants in STIM1
Penetrance
None
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: stim1 has been classified as Red List (Low Evidence).

21 Oct 2019, Gel status: 1

Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STIM1. Source Yorkshire and North East GLH was added to STIM1.

21 Oct 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: STIM1 was added gene: STIM1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, 1, 160565 Review for gene: STIM1 was set to AMBER