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STRs in panel
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COVID-19 research

Gene: MYSM1

Green List (high evidence)

MYSM1 (Myb like, SWIRM and MPN domains 1)
EnsemblGeneIds (GRCh38): ENSG00000162601
EnsemblGeneIds (GRCh37): ENSG00000162601
OMIM: 612176, Gene2Phenotype
MYSM1 is in 5 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

4 cases in 3 kindreds plus mouse model
Created: 11 Jun 2018, 1:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bone marrow failure; neurodevelopmental delay; mid-face hypoplasia; immunodeficiency

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): MYSM1 .PanelApp HGNC gene symbol check: MYSM1 . IUIS Disease: MYSM1 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Immature B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay.. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Immuno-osseous Dysplasias
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Red to Green from external review comment and further publications to support gene-disease association
Created: 13 Jun 2018, 9:45 a.m.
Comment on publications: added mouse model publication 28446309; 22184403
Created: 13 Jun 2018, 9:34 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 13 Jun 2018, 9:28 a.m.
Comment on mode of inheritance: Added MOI from external expert review
Created: 13 Jun 2018, 9:27 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 13 Jun 2018, 9:26 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 13 Jun 2018, 9:26 a.m.
Comment on mode of inheritance: Added MOI from external expert review
Created: 13 Jun 2018, 9:26 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: MYSM1, PanelApp HGNC gene symbol check: MYSM1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / MYSM1 deficiency / MYSM1 deficiency
Created: 17 Apr 2018, 12:29 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Bone marrow failure
  • immunodeficiency
  • Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay.
  • mid-face hypoplasia
  • MYSM1 deficiency
  • neurodevelopmental delay
  • Combined immunodeficiencies with associated or syndromic features
OMIM
612176
Clinvar variants
Variants in MYSM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: MYSM1 was added gene: MYSM1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYSM1 were set to 26220525; 28115216; 26474655; 28446309; 22184403; 24288411 Phenotypes for gene: MYSM1 were set to Bone marrow failure; immunodeficiency; Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay.; mid-face hypoplasia; MYSM1 deficiency; neurodevelopmental delay; Combined immunodeficiencies with associated or syndromic features