NCF1

neutrophil cytosolic factor 1
OMIM: 608512, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green NCF1 in Vasculitis


Level 2: Immunological disorders
Version 0.82

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red NCF1 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services

Green NCF1 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green NCF1 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Chronic granulomatous disease 1, autosomal recessive, MIM# 233700

    Green NCF1 in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.29

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Chronic granulomatous disease 1, autosomal recessive, MIM# 233700

    Green NCF1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)

    Green NCF1 in Chronic granulomatous disease


    Level 2: Immunological disorders
    Version 1.3

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chronic granulomatous disease 1, autosomal recessive, MIM# 233700

    Green NCF1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Chronic granulomatous disease

    Amber NCF1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Mackenzie's Mission
    Phenotypes
    • Chronic granulomatous disease 1, autosomal recessive (MIM#233700)

    Amber NCF1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Chronic granulomatous disease, MIM#233700
    Tags
    • treatable
    • immunological
    • technically challenging