PanelApp
  1. Genes and Genomic Entities
  2. SLC1A2

SLC1A2

solute carrier family 1 member 2
OMIM: 600300, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber SLC1A2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 41, MIM#617105

Green SLC1A2 in Mendeliome


Version 1.3512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental and epileptic encephalopathy 41, MIM# 617105

Green SLC1A2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Developmental and epileptic encephalopathy 41, MIM# 617105

    Green SLC1A2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 41, MIM#617105
    • Intellectual disability

    Red SLC1A2 in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 41, MIM# 617105

    Green SLC1A2 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • developmental and epileptic encephalopathy, 41 MONDO:0014916