COVID-19 researchGene: NCSTN
Discussed with clinical team, and it was felt that the phenotype is better suited to the hidradenitis panel, and would be applied in cases with recurrent skin sepsis. As there isn't a broader immunological phenotype, this gene should remain Amber, as per agreement with external expert review.
Created: 11 Jul 2018, 3:49 p.m.
Kept Amber after external expert review.
Created: 6 Jul 2018, 5:23 p.m.
Comment on publications: publications to support gene-disease association, more than three unrelated cases and causative variants found in more than one ethnicity
Created: 6 Jul 2018, 3:21 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): NCSTN .PanelApp HGNC gene symbol check: NCSTN . IUIS Disease: NCSTN deficiency hidradenitis suppurativa . IUIS Inheritance: AD .T cells: Variable, .B cells: N/A, .IUIS Other affected cells: Epidermis. IUIS Associated features: Hidradenitis suppurativa with acne. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
Created: 6 Jul 2018, 12:30 p.m.
in the differential diagnosis of recurrent skin sepsis
Created: 29 Jun 2018, 9:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
familial hydradenitis suppurativa
Source Expert Review Green was added to NCSTN. Added phenotypes Hidradenitis suppurativa with acne, 142690; Defects in intrinsic and innate immunity; familial hydradenitis suppurativa; Defects in Intrinsic and Innate Immunity; Hidradenitis suppurativa with acne for gene: NCSTN Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: NCSTN was added gene: NCSTN was added to Viral susceptibility. Sources: IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: NCSTN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCSTN were set to 20929727; 32086639; 32048120; 21412258 Phenotypes for gene: NCSTN were set to Hidradenitis suppurativa with acne, 142690; Defects in intrinsic and innate immunity; familial hydradenitis suppurativa; Defects in Intrinsic and Innate Immunity; Hidradenitis suppurativa with acne