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  3. BDNF
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Monogenic hearing loss

Gene: BDNF

Red List (low evidence)
BDNF (brain derived neurotrophic factor)
EnsemblGeneIds (GRCh38): ENSG00000176697
EnsemblGeneIds (GRCh37): ENSG00000176697
OMIM: 113505, Gene2Phenotype
BDNF is in 7 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Inheritance:Autosomal dominant;Multifactorial
Created: 7 Feb 2016, 4:28 p.m.

Mode of inheritance
Other

Phenotypes
#164230:{Obsessive-compulsive disorder, protection against}[Obsessive-compulsive disorder]; #209880:Central hypoventilation syndrome, congenital[Diminished pupillary light responses; Alveolar hypoventilationShallow breathing (decreased tidal volume)Normal respiratory ratePeriods of apneaAbnormal respiration due to defect in autonomic functionDecreased sensitivity to hypercapnia and hypoxemia; Poor feedingConstipationHirschsprung disease (16%); Increased sweating; Dysfunction of the autonomic nervous system; Poor temperature regulationDecreased basal body temperature; Tumors of the sympathetic nervous system (5 to 10%)NeuroblastomaGanglioneuromaGanglioneuroblastoma; Chronic hypoxemiaChronic hypercapnia]; #607499:{Bulimia nervosa, age of onset of weight loss in}[Recurrent episodes of binge eatingRecurrent inappropriate conpensatory behavior to prevent weight gain, including self-induced vomiting, laxative or diuretic abuse, fasting, excessive exerciseOverconcern with weight and body shapeFeelings of guilt associated with episodes; Susceptibility conferred by polymorphisms in the brain-derived neurotrophic factor gene (BDNF,and)]; #610269:{Anorexia nervosa, susceptibility to}]; #:{Memory impairment, susceptibility to}

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BDNF was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert