Hereditary neuropathyGene: SLC52A1
Unable to find any evidence of clear neuropathy association
Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
dHMN; Riboflavin deficiency
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.
Two reproted cases of transient neonatal riboflavin deficiency in children of mothers who have mutations, not the children themselves
Created: 29 Apr 2019, 9:20 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Riboflavin deficiency
Created: 8 Jul 2016, 4:13 a.m.
Comment on mode of inheritance: Source: OMIM
Created: 10 Jun 2016, 1:33 p.m.
Comment on list classification: 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, 1:32 p.m.
Added phenotypes dHMN; Riboflavin deficiency for gene: SLC52A1
Source South West GLH was added to SLC52A1.
Source NHS GMS was added to SLC52A1.
Source London North GLH was added to SLC52A1.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for SLC52A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Amber List (Moderate Evidence).
SLC52A1 was created by ellenmcdonagh
SLC52A1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list