Cerebral folate deficiency
Gene: SLC46A1EnsemblGeneIds (GRCh38): ENSG00000076351
EnsemblGeneIds (GRCh37): ENSG00000076351
OMIM: 611672, Gene2Phenotype
SLC46A1 is in 14 panels
3 reviews
Siddharth Banka banka (Univesrsity of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary folate malabsoprtion
Publications
- PMID: 21333572
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 10 variants reported.Created: 8 Dec 2016, 1:24 p.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Folate Malabsorption
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert Review Green
- Phenotypes
-
- Folate malabsorption, hereditary, OMIM:229050
- OMIM
- 611672
- Clinvar variants
- Variants in SLC46A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset dystonia
- DDG2P
- Cerebral folate deficiency
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC46A1 were changed from Folate malabsorption, hereditary 229050 to Folate malabsorption, hereditary, OMIM:229050
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted after searching for additional genes, none found (8/12/2016)
Upload gene information
Sarah Leigh (Genomics England Curator)SLC46A1 was added to Cerebral folate deficiencypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for SLC46A1 were set to 21333572
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC46A1 were set to Folate malabsorption, hereditary 229050
Added New Source
Siddharth Banka banka (Univesrsity of Manchester)SLC46A1 was added to Cerebral folate deficiencypanel. Sources: Expert Review