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Hereditary neuropathy NOT PMP22 copy number

Gene: SLC52A2

Green List (high evidence)

SLC52A2 (solute carrier family 52 member 2)
EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 18 panels

6 reviews

Louise Daugherty (Genomics England Curator)

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

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.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

BVVL
Created: 9 Dec 2015, 8:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mary Reilly (Institute of Neurology)

Green List (high evidence)

BVVL
Created: 8 Dec 2015, 3:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

gene: SLC52A2 was added gene: SLC52A2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to BVVL; Brown-Vialetto-Van Laere syndrome 2