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  2. Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
  3. STIM1
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

I agree with Zornitza Stark (Australian Genomics) that monoallelic variants in STIM1 causes myopathy rather than limb-girdle muscular dystrophy. However, the clinical indication from the NHS testing directory covered by this panel (R82) now includes myofibrillar and distal myopathies. In addition, this gene is part of the LGMD panel used by the North East and Yorkshire Genomic Medicine Service, as reviewed by Chiara Marini Bettolo (NUTH).
Created: 3 May 2023, 9:13 a.m. | Last Modified: 3 May 2023, 9:13 a.m.
Panel Version: 4.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, tubular aggregate, 1, OMIM:160565

Created: 3 May 2023, 9:13 a.m.
Last Modified: 3 May 2023, 9:13 a.m.
Panel version: 4.15

Zornitza Stark (Australian Genomics)

I don't know

A myopathy rather than LGMD.
Created: 29 Jun 2020, 10:11 a.m. | Last Modified: 29 Jun 2020, 10:11 a.m.
Panel Version: 2.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, tubular aggregate, 1 (MIM#160565); Stormorken syndrome (MIM#185070)

Created: 29 Jun 2020, 10:11 a.m.
Last Modified: 29 Jun 2020, 10:11 a.m.
Panel version: 2.6

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
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
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

Created: 21 Oct 2019, 10:59 a.m.

Panel version: 1.92

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