SLC46A1

solute carrier family 46 member 1
OMIM: 611672, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SLC46A1 in Cerebral folate deficiency Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.4	review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green Expert Review Phenotypes Folate malabsorption, hereditary, OMIM:229050
Green SLC46A1 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Folate malabsorption, hereditary, OMIM:229050 Congenital defect of folate absorption Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability Defects of Vitamin B12 and Folate metabolism Combined immunodeficiencies with associated or syndromic features
Red SLC46A1 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Green SLC46A1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Folate malabsorption, hereditary, OMIM:229050 Defects of Vitamin B12 and Folate metabolism Congenital defect of folate absorption Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability Combined immunodeficiencies with associated or syndromic features
Green SLC46A1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Phenotypes Folate malabsorption, hereditary, OMIM:229050 anemia pancytopenia
Amber SLC46A1 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Phenotypes Folate malabsorption, hereditary, OMIM:229050 anemia pancytopenia Tags Q3_25_promote_green Q3_25_NHS_review
Red SLC46A1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	Unknown	Sources Expert Review Red Phenotypes Dystonia
Green SLC46A1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Folate malabsorption, hereditary, OMIM:229050 Hereditary folate malabsorption (Disorders of folate metabolism and transport)
Green SLC46A1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Folate malabsorption, hereditary, OMIM:229050 Hereditary folate malabsorption (Disorders of folate metabolism and transport)
Red SLC46A1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Folate malabsorption, hereditary, OMIM:229050
Green SLC46A1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY FOLATE MALABSORPTION 229050
Green SLC46A1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Folate malabsorption, hereditary, OMIM:229050
Red SLC46A1 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Folate malabsorption, hereditary, OMIM:229050
Red SLC46A1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert Review Red London North GLH Phenotypes Folate malabsorption, hereditary, OMIM:229050