Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MYSM1Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 14 Oct 2020, 1:34 p.m. | Last Modified: 14 Oct 2020, 1:34 p.m.
Panel Version: 2.282
The following PubMed IDs were added to gene MYSM1 (OMIM gene MIM#612176): 24288411;28115216;22184403. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
4 cases in 3 kindreds plus mouse modelCreated: 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
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 DysplasiasCreated: 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 associationCreated: 13 Jun 2018, 9:45 a.m.
Comment on publications: added mouse model publication 28446309; 22184403Created: 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 reviewCreated: 13 Jun 2018, 9:27 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 13 Jun 2018, 9:26 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 13 Jun 2018, 9:26 a.m.
Comment on mode of inheritance: Added MOI from external expert reviewCreated: 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 deficiencyCreated: 17 Apr 2018, 12:29 p.m.
Gene: mysm1 has been classified as Green List (High Evidence).
Source Other was added to MYSM1. Publications for gene MYSM1 were updated from 24288411; 26220525; 28115216; 28446309; 22184403; 26474655 to 26474655; 26220525; 24288411; 28446309; 28115216; 22184403 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to MYSM1.
Source North West GLH was added to MYSM1.
Source London North GLH was added to MYSM1.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene MYSM1 were set to MYSM1 deficiency, Bone marrow failure, neurodevelopmental delay, mid-face hypoplasia, immunodeficiency, Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay., Combined immunodeficiencies with associated or syndromic features
IUIS Classification February 2018 was added to MYSM1. Panel: Primary immunodeficiency disorders
Gene: mysm1 has been classified as Green List (High Evidence).
Gene: mysm1 has been classified as Green List (High Evidence).
Publications for gene: MYSM1 were set to 24288411; 26220525; 28115216; 28446309; 22184403; 26474655
Publications for gene: MYSM1 were set to 24288411; 26220525; 28115216; 28446309; 22184403
Publications for gene: MYSM1 were set to 24288411; 26220525; 28115216; 28446309
Phenotypes for gene: MYSM1 were set to MYSM1 deficiency; Bone marrow failure; neurodevelopmental delay; mid-face hypoplasia; immunodeficiency
Mode of inheritance for gene: MYSM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 24288411; 26220525; 28115216
Publications for gene: MYSM1 were set to 24288411; 26220525; 28115216
Mode of inheritance for gene: MYSM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
MYSM1 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117
MYSM1 was created by Louise Daugherty