Motor Neurone Disease
Gene: SLC52A1
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
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
No reported evidence of MND associated with gene.
Sources: Expert listCreated: 16 Jan 2020, 3:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Riboflavin deficiency, 615026
Publications
Gene: slc52a1 has been classified as Red List (Low Evidence).
Phenotypes for gene: SLC52A1 were changed from to Riboflavin deficiency, MIM#615026
Publications for gene: SLC52A1 were set to
Mode of inheritance for gene: SLC52A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: slc52a1 has been classified as Red List (Low Evidence).
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