1. Genes and Genomic Entities
  2. BDNF

BDNF

brain derived neurotrophic factor
OMIM: 113505, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red BDNF in Severe familial anorexia

Level 3: Disorders of extremely low weight , severe familial anorexia
Level 2: Metabolic disorders
Version 1.4

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Memory impairment, susceptibility to}Central hypoventilation syndrome, congenital, 209880{Obsessive-compulsive disorder, protection against}, 164230{Bulimia nervosa, age of onset of weight loss in},607499{Anorexia nervosa, susceptibi
Red BDNF in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.32

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Central hypoventilation syndrome, congenital
Red BDNF in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Central hypoventilation syndrome, congenital, 209880
  • CCHS
Red BDNF in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.40

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Central hypoventilation syndrome, congenital 209880
Red BDNF in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Red BDNF in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Central hypoventilation syndrome, congenital 209880
    Red BDNF in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    Phenotypes
    • Central hypoventilation syndrome, congenital, 209880