Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NCSTNDiscussed 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 ethnicityCreated: 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 TissuesCreated: 6 Jul 2018, 12:30 p.m.
in the differential diagnosis of recurrent skin sepsisCreated: 29 Jun 2018, 9:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
familial hydradenitis suppurativa
Source IUIS Classification December 2019 was added to NCSTN. Added phenotypes Defects in intrinsic and innate immunity; Hidradenitis suppurativa with acne for gene: NCSTN Publications for gene NCSTN were updated from 20929727; 21412258 to 32048120; 20929727; 21412258; 32086639
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: ncstn has been classified as Amber List (Moderate Evidence).
Gene: ncstn has been classified as Amber List (Moderate Evidence).
Publications for gene: NCSTN were set to 20929727; 21412258
Publications for gene: NCSTN were set to 20929727
Mode of inheritance for gene: NCSTN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NCSTN were set to Hidradenitis suppurativa with acne, 142690; Defects in Intrinsic and Innate Immunity; familial hydradenitis suppurativa
Mode of inheritance for gene: NCSTN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance for gene: NCSTN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene NCSTN were set to Hidradenitis suppurativa with acne, Defects in Intrinsic and Innate Immunity
NCSTN was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
NCSTN was created by Louise Daugherty