This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
Gene: SLC46A1
SLC46A1 (solute carrier family 46 member 1)
EnsemblGeneIds (GRCh38): ENSG00000076351
EnsemblGeneIds (GRCh37): ENSG00000076351
OMIM: 611672, Gene2Phenotype
SLC46A1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000076351
EnsemblGeneIds (GRCh37): ENSG00000076351
OMIM: 611672, Gene2Phenotype
SLC46A1 is in 14 panels
1 review
Emily Jones (North Bristol NHS Trust)
Movement disorder not listed as a part of the phenotypeCreated: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Folate malabsorption, hereditary, 229050
- OMIM
- 611672
- Clinvar variants
- Variants in SLC46A1
- Penetrance
- None
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Early onset dystonia
- DDG2P
- Cytopenias and congenital anaemias
- Cerebral folate deficiency
- COVID-19 research
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Fetal anomalies
- Intellectual disability
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene SLC46A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to SLC46A1.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SLC46A1 was added gene: SLC46A1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: SLC46A1 was set to