Hereditary neuropathy NOT PMP22 copy numberGene: 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.
gene: SLC52A1 was added gene: SLC52A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Red,South West GLH Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency; dHMN