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Hearing loss

Gene: ERBB4

Red List (low evidence)

ERBB4 (erb-b2 receptor tyrosine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000178568
EnsemblGeneIds (GRCh37): ENSG00000178568
OMIM: 600543, Gene2Phenotype
ERBB4 is in 3 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#615515:Amyotrophic lateral sclerosis 19[Respiratory insufficiency due to muscle weakness; Upper motor neuron degenerationLower motor neuron degenerationLoss of ability to walk]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ERBB4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert