Hereditary neuropathy or pain disorder
Gene: REEP1
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 generationsCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
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.
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to agreement from 4 reviewers.Created: 5 May 2016, 9:30 a.m.
gene: REEP1 was added gene: REEP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REEP1 were set to 19034539; 22703882 Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant 610250; ?Neuronopathy, distal hereditary motor, type VB, 614751; Cardiomyopathy