Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NSMCE3

NSMCE3 (NSE3 homolog, SMC5-SMC6 complex component)
EnsemblGeneIds (GRCh38): ENSG00000185115
EnsemblGeneIds (GRCh37): ENSG00000185115
OMIM: 608243, Gene2Phenotype
NSMCE3 is in 3 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

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

Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: 1.94

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

Comment on list classification: changed from Red to Green from external expert review and publication to support gene-disease association
Created: 6 Jul 2018, 4:02 p.m.

Comment on publications: added publication to support gene-disease association
Created: 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 1
Created: 6 Jul 2018, 12:31 p.m.

Created: 6 Jul 2018, 12:31 p.m.

Panel version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

4 patients, 2 kindreds
Created: 29 Jun 2018, 10:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
lung disease, combined immunodeficiency, and chromosome breakage syndrome

Publications

27427983

Created: 29 Jun 2018, 10:01 p.m.

Panel version: 0.1371

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
North West GLH
London North GLH
Expert Review Green
IUIS Classification February 2018

Phenotypes

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

OMIM

608243

Clinvar variants

Variants in NSMCE3

Penetrance

None

Publications

27427983

Panels with this gene