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  2. Defects of intrinsic and innate immunity
  3. NCSTN
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Defects of intrinsic and innate immunity

Gene: NCSTN

Green List (high evidence)
NCSTN (nicastrin)
EnsemblGeneIds (GRCh38): ENSG00000162736
EnsemblGeneIds (GRCh37): ENSG00000162736
OMIM: 605254, Gene2Phenotype
NCSTN is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 families reported with acne inversa (also known as hidradenitis suppurativa)
Sources: Expert list
Created: 19 Mar 2021, 2:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acne inversa, familial, 1 MIM#142690

Publications

Created: 19 Mar 2021, 2:34 a.m.

Panel version: 0.58

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Acne inversa, familial, 1 MIM#142690
OMIM
605254
Clinvar variants
Variants in NCSTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ncstn has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ncstn has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NCSTN was added gene: NCSTN was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: NCSTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NCSTN were set to 20929727; 21412258; 32048120 Phenotypes for gene: NCSTN were set to Acne inversa, familial, 1 MIM#142690 Review for gene: NCSTN was set to GREEN