Hereditary neuropathy
Gene: SLC52A2
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.
Variants in this GENE are reported as part of current diagnostic practice
Added the 'treatable' tag, as riboflavin treatment may be beneficial to patients.Created: 13 Aug 2018, 4:38 p.m.
This gene is in the Charcot Marie Tooth Disease section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of dHMN.Created: 10 Jun 2016, 1:34 p.m.
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.Created: 5 May 2016, 10:19 a.m.
BVVLCreated: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
BVVLCreated: 8 Dec 2015, 3:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to SLC52A2.
Source London North GLH was added to SLC52A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2; BVVL
Mode of inheritance for SLC52A2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLC52A2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list