Cytopenia - NOT Fanconi anaemia

Gene: STIM1

Amber List (moderate evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Stormorken syndrome (York platelet syndrome); North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no commetn submitted; London South GLH: no comment submitted.
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH as being Green on the Bleeding and Platelet disorders panel but should be Red on this panel
Created: 22 Jul 2019, 2:56 p.m. | Last Modified: 22 Jul 2019, 2:56 p.m.
Panel Version: 0.117
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 185070 Stormorken syndrome; PMID(s): 25577287
Created: 8 Feb 2019, 1:43 p.m.

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 1:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
185070 Stormorken syndrome

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert review Amber
  • North West GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
  • NHS GMS
  • London South GLH
Phenotypes
  • Stormorken syndrome, 185070
OMIM
605921
Clinvar variants
Variants in STIM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Nov 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to STIM1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Amber was added to STIM1.

4 Nov 2019, Gel status: 1

Added New Source, Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to STIM1. Source Yorkshire and North East GLH was added to STIM1. Source North West GLH was added to STIM1.

4 Nov 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: STIM1 were changed from 185070 Stormorken syndrome to Stormorken syndrome, 185070

22 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

8 Feb 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to STIM1. Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Feb 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene STIM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 185070 Stormorken syndrome for gene: STIM1

8 Feb 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 185070 Stormorken syndrome for gene: STIM1 Publications for gene STIM1 were changed from to 25577287

8 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STIM1.

8 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: STIM1 was added gene: STIM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: STIM1 was set to