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

NNT

nicotinamide nucleotide transhydrogenase
OMIM: 607878, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green NNT in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736

Amber NNT in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.969

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736

    Green NNT 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
    • Glucocorticoid deficiency 4, 614736 (3)

    Green NNT in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736
    • MONDO:0013874

    Green NNT in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM# 614736
    Tags
    • treatable
    • endocrine

    Green NNT in Prepair 500+


    Level 2: Screening
    Version 1.5

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glucocorticoid deficiency 4, 614736 (3)

    Green NNT in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of niacin and NAD metabolism
    • glucocorticoid deficiency 4 MONDO:0013874