NBAS

neuroblastoma amplified sequence
OMIM: 608025, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green NBAS in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Infantile liver failure syndrome 2, 616483
  • Defects in intrinsic and innate immunity
  • Fever induced liver failure
  • Defects in Intrinsic and Innate Immunity
  • Fever induces liver failure
Green NBAS in Cholestasis


Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Infantile liver failure syndrome 2, OMIM:616483
Red NBAS in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Defects in Intrinsic and Innate Immunity
  • Infantile liver failure syndrome 2, 616483
  • Fever induces liver failure
  • Fever induced liver failure
  • Defects in intrinsic and innate immunity
Green NBAS in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Green NBAS in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.6
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
    Green NBAS in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
    Green NBAS in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
    • bone fragility
    • immunodeficiency
    • developmental delay
    Green NBAS in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
    • ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
    • SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 616483
    Green NBAS in Growth failure in early childhood


    Version 3.96
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800
    Amber NBAS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
    Green NBAS in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.11
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • RetNet
    Phenotypes
    • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800
    • short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889
    Green NBAS in Severe Paediatric Disorders


    Version 1.184

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