Rare genetic inflammatory skin disorders

Gene: NCSTN

Green List (high evidence)

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
ACNE INVERSA, FAMILIAL, 1; ACNINV1

Publications

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that Green genes associated with Familial hidradenitis suppurativa should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • ACNINV1
  • ACNE INVERSA, FAMILIAL, 1
OMIM
605254
Clinvar variants
Variants in NCSTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes ACNINV1; ACNE INVERSA, FAMILIAL, 1 for gene: NCSTN Publications for gene NCSTN were changed from to 20929727

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to NCSTN. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: NCSTN was added gene: NCSTN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Mode of inheritance for gene: NCSTN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown