NCSTN

nicastrin
OMIM: 605254, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green NCSTN in Familial hidradenitis suppurativa Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Acne inversa, familial, 1, 142690 hidradenitis suppurativa
Green NCSTN in COVID-19 research Level 2: Viral research Version 1.142	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification February 2018 IUIS Classification December 2019 IUIS Classification December 2019 IUIS Classification February 2018 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
Green NCSTN in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes ACNE INVERSA, FAMILIAL, 1, OMIM:142690
Amber NCSTN in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	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