Motor Neurone Disease

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 3 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Gene-disease association not established.

Only 2 variants reported to date:
- an intronic variant which did not segregate with disease in a family, has conflicting reports in ClinVar, and has been suggested to just be a risk factor (PMID: 29122468).
- an exon 2-3 deletion in a single patient, from which authors speculated haploinsufficiency as the disease mechanism (PMID: 17689999).
Created: 28 Feb 2020, 9 a.m. | Last Modified: 28 Feb 2020, 9 a.m.
Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Riboflavin deficiency, MIM#615026

Publications

Kristin Rigbye (Victorian Clinical Genetics Services)

Red List (low evidence)

Gene-disease association not established.

Only 2 variants reported to date:
- an intronic variant which did not segregate with disease in a family, has conflicting reports in ClinVar, and has been suggested to just be a risk factor (PMID: 29122468).
- an exon 2-3 deletion in a single patient, from which authors speculated haploinsufficiency as the disease mechanism (PMID: 17689999).
Created: 28 Feb 2020, 3:27 a.m. | Last Modified: 28 Feb 2020, 3:27 a.m.
Panel Version: 0.1473

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Riboflavin deficiency, 615026

Publications

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No reported evidence of MND associated with gene.
Sources: Expert list
Created: 16 Jan 2020, 3:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Riboflavin deficiency, 615026

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review Red
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Riboflavin deficiency, MIM#615026
OMIM
607883
Clinvar variants
Variants in SLC52A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc52a1 has been classified as Red List (Low Evidence).

28 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC52A1 were changed from to Riboflavin deficiency, MIM#615026

28 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC52A1 were set to

28 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC52A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc52a1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC52A1 was added gene: SLC52A1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: SLC52A1 was set to Unknown