BDNF

brain derived neurotrophic factor
OMIM: 113505, Gene2Phenotype

8 panels

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

Level 3: Disorders of extremely low weight , severe familial anorexia
Level 2: Metabolic disorders
Version 1.3

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 1.31

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 1.15

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


Version 0.13

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

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39

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 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.36
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    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


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

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