Hereditary neuropathy

Gene: REEP1

Green List (high evidence)

Vast majority associated with HSP however appears to be some overlap and in Bristol we have identified 4 likley/pathogenic variants on CMT panel. PMID: 19034539 - 3 REEP1 variants identifed. One was shown to be segregating in 3 members of a family with HSP and to be absent in 8 unaffecteds. PMID: 22703882 - REEP1 variant in family with dHMN shown to segregate with disease in 4 relatives across 3 generations

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 31, autosomal dominant 610250; ?Neuronopathy, distal hereditary motor, type VB, 614751

Publications

• 19034539
• 22703882

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)

Green List (high evidence)

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

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Green List (high evidence)

Comment on list classification: Promoted from red to green due to agreement from 4 reviewers.

Created: 5 May 2016, 9:30 a.m.