Genes in panel

Hereditary neuropathy

Gene: SLC52A1

Red List (low evidence)

SLC52A1 (solute carrier family 52 member 1)
EnsemblGeneIds (GRCh38): ENSG00000132517
EnsemblGeneIds (GRCh37): ENSG00000132517
OMIM: 607883, Gene2Phenotype
SLC52A1 is in 8 panels

5 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

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

Phenotypes
dHMN; Riboflavin deficiency

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.
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.

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

Red List (low evidence)

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

Richard Scott (Genomics England Curator)

Comment on list classification: Riboflavin deficiency
Created: 8 Jul 2016, 4:13 a.m.

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • dHMN
  • Riboflavin deficiency
  • Riboflavin deficiency
OMIM
607883
Clinvar variants
Variants in SLC52A1
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes dHMN; Riboflavin deficiency for gene: SLC52A1

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SLC52A1.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC52A1.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SLC52A1.

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 Jun 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC52A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Created

Ellen McDonagh (Genomics England Curator)

SLC52A1 was created by ellenmcdonagh

10 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC52A1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list