SLC46A1

solute carrier family 46 member 1
OMIM: 611672, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green SLC46A1 in Cerebral folate deficiency

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert Review
Phenotypes
  • Folate malabsorption, hereditary 229050

Red SLC46A1 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.81

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Green SLC46A1 in Primary immunodeficiency


Version 2.1
Signed off v.2.0 on 12 Nov 2019

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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 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

No list SLC46A1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.73

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review
Phenotypes
  • Folate malabsorption
  • anemia
  • pancytopenia

Red SLC46A1 in Neurodegenerative disorders - adult onset


Version 2.1
Signed off v.2.0 on 11 Dec 2019

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia

Green SLC46A1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.413

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary folate malabsorption (Disorders of folate metabolism and transport)
  • Folate malabsorption, hereditary

Green SLC46A1 in Inborn errors of metabolism


Version 2.4
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Folate malabsorption, hereditary
    • Hereditary folate malabsorption (Disorders of folate metabolism and transport)

    Red SLC46A1 in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HEREDITARY FOLATE MALABSORPTION

    Green SLC46A1 in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • HEREDITARY FOLATE MALABSORPTION (HFM)

    Red SLC46A1 in Adult onset movement disorder


    Version 1.1
    Signed off v.1.0 on 29 Nov 2019

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Folate malabsorption, hereditary, 229050
    • Dystonia

    Red SLC46A1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.1
    Signed off v.1.0 on 12 Dec 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Folate malabsorption, hereditary, 229050