Hereditary neuropathy

Gene: PMP22

PMID: 32356557 - Pantera et al 2020 - investigate the effect of a distal super-enhancer domain on the expression of PMP22. Loss of the super-enhancer in mice reduces Pmp22 expression throughout development and into adulthood. The mice display tomacula formed by excessive myelin folding, which is a pathological hallmark of HNPP (hereditary neuropathy with liability to pressure palsies). The findings demonstrate a mechanism by which smaller copy number variations, not including the Pmp22 gene, are sufficient to reduce gene expression and phenocopy a peripheral neuropathy caused by the HNPP-associated deletion encompassing PMP22.

Created: 30 Jul 2020, 2:16 p.m. | Last Modified: 30 Jul 2020, 2:16 p.m.

Panel Version: 1.374

Publications

• 32356557

Green List (high evidence)

Multiple C5s in Bristol. Also well established from looking at HGMD

Created: 29 Apr 2019, 12:30 p.m.

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

Phenotypes
Charcot Marie Tooth disease, type 1A, 118220; Dejerine Sottas disease, 145900; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 5 p.m.

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.

Created: 29 Apr 2019, 12:53 p.m.

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Green List (high evidence)

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

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.

Created: 10 Jun 2016, 1:09 p.m.

Is on the Charcot-Marie- Tooth disease type 1 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.

Created: 10 Jun 2016, 1 p.m.