PanelApp (staging)
  1. Genes and Genomic Entities
  2. NBAS

NBAS

neuroblastoma amplified sequence
OMIM: 608025, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green NBAS in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.225

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly - MIM#614800

Green NBAS in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
  • Infantile liver failure syndrome 2, MIM# 616483
  • Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541

Green NBAS in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • short stature
  • bone fragility
  • developmental delay
  • immunodeficiency
  • autism
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800

Green NBAS in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.45

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly

    Green NBAS in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.5

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541

    Green NBAS in Defects of intrinsic and innate immunity


    Level 2: Immunological disorders
    Version 1.19

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800
    • Infantile liver failure syndrome 2 MIM#616483

    Green NBAS in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800

    Green NBAS in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)

    Green NBAS in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Infantile liver failure syndrome 2, MIM# 616483

    Green NBAS in Growth failure


    Version 1.76

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800

    Green NBAS in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM#614800)
    • bone fragility
    • developmental delay
    • immunodeficiency
    • autism

    Green NBAS in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM#614800
    • Infantile liver failure syndrome 2, MIM#616483

    Green NBAS in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
    • immunodeficiency
    • short stature
    • bone fragility
    • developmental delay
    • autism