Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NSMCE3
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
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
Comment on list classification: changed from Red to Green from external expert review and publication to support gene-disease associationCreated: 6 Jul 2018, 4:02 p.m.
Comment on publications: added publication to support gene-disease associationCreated: 6 Jul 2018, 3:58 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): NSMCE3 .PanelApp HGNC gene symbol check: NSMCE3 . IUIS Disease: NSMCE3 deficiency . IUIS Inheritance: AR .T cells: Very low, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DNA Repair Defects other than those listed in Table 1Created: 6 Jul 2018, 12:31 p.m.
4 patients, 2 kindredsCreated: 29 Jun 2018, 10:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
lung disease, combined immunodeficiency, and chromosome breakage syndrome
Publications
Source NHS GMS was added to NSMCE3.
Source North West GLH was added to NSMCE3.
Source London North GLH was added to NSMCE3.
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.
Gene: nsmce3 has been classified as Green List (High Evidence).
Gene: nsmce3 has been classified as Green List (High Evidence).
Gene: nsmce3 has been classified as Green List (High Evidence).
Publications for gene: NSMCE3 were set to 27427983
Phenotypes for gene: NSMCE3 were set to Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241; Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity; Combined immunodeficiencies with associated or syndromic features
Mode of inheritance for gene: NSMCE3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene NSMCE3 were set to Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity, Combined immunodeficiencies with associated or syndromic features
NSMCE3 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
NSMCE3 was created by Louise Daugherty