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Hearing loss

Gene: GJB4

Red List (low evidence)

GJB4 (gap junction protein beta 4)
EnsemblGeneIds (GRCh38): ENSG00000189433
EnsemblGeneIds (GRCh37): ENSG00000189433
OMIM: 605425, Gene2Phenotype
GJB4 is in 5 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#133200:Erythrokeratodermia variabilis with erythema gyratum repens[Hyperkeratosis, generalizedLocalized symmetric fixed, yellow- or red-brown hyperkeratotic plaques (extensor surface of extremities, buttocks, and lateral trunk)Palmoplantar keratoderma, patchy (> 50%)Transient, migratory sharply outlined erythema (in some patients)Darkening of periorificial areas; PapillomatosisAcanthosisHypergranulosisCompact orthohyperkeratosis with retained nucleiFollicular plugging in less affected areas; Enlarged porcelain-white lunulae]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert