SLC1A1

solute carrier family 1 member 1
OMIM: 133550, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber SLC1A1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Dicarboxylic aminoaciduria, MIM# 222730

Amber SLC1A1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Dicarboxylic aminoaciduria, MIM#222730

Amber SLC1A1 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Dicarboxylic aminoaciduria, MIM#222730

    Amber SLC1A1 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • ClinGen
    Phenotypes
    • dicarboxylic aminoaciduria MONDO:0009110

    Amber SLC1A1 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dicarboxylic aminoaciduria, MIM# 222730