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Primary immunodeficiency

Gene: NCSTN

Amber List (moderate evidence)

NCSTN (nicastrin)
EnsemblGeneIds (GRCh38): ENSG00000162736
EnsemblGeneIds (GRCh37): ENSG00000162736
OMIM: 605254, Gene2Phenotype
NCSTN is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

Sophie Hambleton (Newcastle University)

I don't know

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

Phenotypes
familial hydradenitis suppurativa

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification December 2019
  • Expert Review Amber
  • IUIS Classification February 2018
Phenotypes
  • Defects in Intrinsic and Innate Immunity
  • familial hydradenitis suppurativa
  • Hidradenitis suppurativa with acne, 142690
  • Defects in intrinsic and innate immunity
  • Hidradenitis suppurativa with acne
OMIM
605254
Clinvar variants
Variants in NCSTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

12 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

6 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ncstn has been classified as Amber List (Moderate Evidence).

6 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ncstn has been classified as Amber List (Moderate Evidence).

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NCSTN were set to 20929727; 21412258

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NCSTN were set to 20929727

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: NCSTN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NCSTN were set to Hidradenitis suppurativa with acne, 142690; Defects in Intrinsic and Innate Immunity; familial hydradenitis suppurativa

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: NCSTN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: NCSTN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene NCSTN were set to Hidradenitis suppurativa with acne, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

NCSTN was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

NCSTN was created by Louise Daugherty