Genes in panel

Hereditary neuropathy

Gene: SLC52A3

Green List (high evidence)

SLC52A3 (solute carrier family 52 member 3)
EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 16 panels

4 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)

Richard Scott (Genomics England Curator)

Comment on list classification: Brown-Vialetto-Van Laere Syndrome 1
Created: 8 Jul 2016, 4:15 a.m.

Ellen McDonagh (Genomics England Curator)

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, 1:48 p.m.

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC52A3.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SLC52A3. Rating Changed from Green List (high evidence) to Green List (high evidence)

8 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jul 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for SLC52A3 were set to 20206331

8 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC52A3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list

10 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC52A3 was created by ellenmcdonagh