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 1.13

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 1.12

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 1.17

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 Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.113
Signed off v.2.5 on 13 Feb 2020

review Not set
Sources
  • Expert

Red BDNF in Adult onset movement disorder


Version 1.16
Signed off v.1.14 on 15 Oct 2020

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 or chorea or related movement disorder


Version 1.64
Signed off v.1.58 on 6 Oct 2020

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