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Hearing loss

Gene: PMP22

Red List (low evidence)

PMP22 (peripheral myelin protein 22)
EnsemblGeneIds (GRCh38): ENSG00000109099
EnsemblGeneIds (GRCh37): ENSG00000109099
OMIM: 601097, Gene2Phenotype
PMP22 is in 8 panels

2 reviews

Zornitza Stark (Australian Genomics)

I don't know

CMT caused by variants in PMP22 has been described in association with deafness in a very small number of families. Specific variants may be responsible for the association (A67P, W28R and deletion of 4 amino acids: ala, ile, tyr, and thr, at positions 115-118)
Created: 29 Jan 2020, 6:07 a.m. | Last Modified: 29 Jan 2020, 6:07 a.m.
Panel Version: 2.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, type 1E 118300

Publications

Jun Shen (Harvard Medical School)

Inheritance:?Autosomal dominant;Autosomal dominant;Autosomal recessive
Created: 9 Feb 2016, 10:07 a.m.
Inheritance:Autosomal dominant;?Autosomal dominant;Autosomal recessive
Created: 7 Feb 2016, 7:12 p.m.
Inheritance:?Autosomal dominant;Autosomal recessive;Autosomal dominant
Created: 7 Feb 2016, 4:55 p.m.
Inheritance:Autosomal dominant;Autosomal recessive;?Autosomal dominant
Created: 7 Feb 2016, 3:45 p.m.
Inheritance:Autosomal dominant,?Autosomal dominant,Autosomal recessive
Created: 7 Feb 2016, 9:29 a.m.
Inheritance:Autosomal recessive
Created: 7 Feb 2016, 9 a.m.

Mode of inheritance
Other

Phenotypes
#118220:Charcot-Marie-Tooth disease, type 1A[Kyphoscoliosis may occur; Claw hand deformities (in severe cases); Pes cavusHammer toesFoot deformities; Distal limb muscle weakness due to peripheral neuropathyDistal limb muscle atrophy due to peripheral neuropathy' Steppage' gaitFoot dropCold-induced muscle crampsDistal sensory impairmentHyporeflexiaAreflexiaDecreased motor nerve conduction velocity (NCV) (less than 38 m/s)Hypertrophic nerve changes' Onion bulb' formations on nerve biopsySegmental demyelination/remyelination on nerve biopsyDecreased number of myelinated fibersMyelin outfoldings may occur in a subset of patients]; #118300:Charcot-Marie-Tooth disease, type 1E[Sensorineural hearing loss; Claw hand deformities; Pes calcaneovarusPes cavusHammertoesFoot deformities; Distal limb muscle weakness due to peripheral neuropathyDistal limb muscle atrophy due to peripheral neuropathy' Steppage' gaitFoot dropPoor balanceDistal sensory impairmentHyporeflexiaAreflexiaDecreased motor nerve conduction velocity (NCV)]; #139393:Neuropathy, inflammatory demyelinating[Acute demyelinating polyneuropathy; Usually sporadic]; #145900:Dejerine-Sottas disease[Nystagmus (in some patients); Kyphoscoliosis may occur; Claw hand deformities (in severe cases); Pes cavusHammer toesFoot deformities; Delayed motor developmentHypotoniaDistal limb muscle weakness due to peripheral neuropathyDistal limb muscle atrophy due to peripheral neuropathy' Steppage' gaitFoot dropDistal sensory impairmentSensory ataxiaHyporeflexiaAreflexiaIncreased CSF proteinSeverely decreased motor nerve conduction velocity (NCV) (less than 38 m/s)Hypertrophic nerve changes' Onion bulb' formations on nerve biopsySegmental demyelination/remyelination on nerve biopsyDecreased number of myelinated fibers]; #162500:Neuropathy, recurrent, with pressure palsies[Peroneal muscle weakness, transient, recurrent due to peripheral neuropathyRadial, ulnar, and median nerve muscles may be affectedVocal cord paralysis has been reportedHyporeflexiaTomacula (sausage-shaped swellings of the myelin sheath) on nerve biopsySegmental demyelination/remyelination on nerve biopsyDecreased motor nerve conduction velocities (NCV)]; #180800:Roussy-Levy syndrome[Kyphoscoliosis may be present; Pes cavusHammer toesFoot deformities; Delayed motor developmentDistal limb muscle weakness due to peripheral neuropathyDistal limb muscle atrophy due to peripheral neuropathyAtaxic gaitDistal sensory impairmentAreflexiaHyporeflexiaUpper limb postural tremorUpper limb action tremorDecreased motor nerve conduction velocity (NCV) (less than 20 m/s)Segmental demyelination/remyelination on nerve biopsyDecreased number of myelinated fibersHypertrophic nerve changes' Onion bulb' formations may be present; Foot ulcerationsFoot infections leading to amputation]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PMP22 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert