BDNF

brain derived neurotrophic factor
OMIM: 113505, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red BDNF in Central Hypoventilation


Level 2: Neurology and neurodevelopmental disorders
Version 1.7

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM#209880
Tags
  • refuted

Amber BDNF in Mendeliome


Version 1.4852

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Obesity disorder, MONDO:0011122, BDNF-related

Red BDNF in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM#209880

Red BDNF in Additional findings_Paediatric


Level 2: Screening
Version 0.280

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Central hypoventilation syndrome

Amber BDNF in Severe early-onset obesity


Level 2: Endocrine disorders
Version 1.32

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Obesity disorder, MONDO:0011122, BDNF-related

Red BDNF in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.148

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Central hypoventilation syndrome