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Hearing loss

Gene: GJB1

Red List (low evidence)

GJB1 (gap junction protein beta 1)
EnsemblGeneIds (GRCh38): ENSG00000169562
EnsemblGeneIds (GRCh37): ENSG00000169562
OMIM: 304040, Gene2Phenotype
GJB1 is in 8 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Inheritance:X-linked dominant
Created: 9 Feb 2016, 10:06 a.m.
Inheritance:X-linked dominant Inheritance:X-linked dominant
Created: 7 Feb 2016, 8:57 a.m.

Mode of inheritance

#302800:Charcot-Marie-Tooth neuropathy, X-linked dominant, 1[Sensorineural hearing loss (uncommon); Nystagmus (in some patients); Achilles tendon contractures; Pes cavus; Muscle biopsy showed neurogenic changesFiber size variationType 1 fiber predominanceDistal muscle atrophy; Central nervous system involvement (in some patients)Delayed motor developmentTransient, reversible neurologic deficitsParaparesisMonoparesisNumbnessMotor aphasiaDysarthriaDysphagiaTremorSpinocerebellar ataxia (in some patients)Limb incoordination (in some patients)Dysmetria (in some patients)Pyramidal signs (in some patients)Hyperreflexia in the lower limbs (in some patients)Extensor plantar responses (in some patients)Cerebellar atrophy (in some patients)White matter abnormalities seen on MRI which resolve over time; Distal limb muscle weakness due to peripheral neuropathyDistal limb muscle atrophy due to peripheral neuropathyGait disturbanceToe-walkingDifficulty walking on heelsHyporeflexiaDistal sensory impairmentReduced motor nerve conduction velocity (NCV) (range less than 38 m/s to normal)Normal NCVLoss of myelinated fibers seen on nerve biopsyAxonal degenerationRegenerative nerve sproutingThin myelin sheathsOnion bulb formations]


History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert