SLC1A4

solute carrier family 1 member 4
OMIM: 600229, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SLC1A4 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
  • MONDO:0014725
Tags
  • founder

Green SLC1A4 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
  • MONDO:0014725
Tags
  • founder

Green SLC1A4 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
    • MONDO:0014725
    Tags
    • founder

    Green SLC1A4 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SLC1A4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
    • MONDO:0014725
    Tags
    • founder

    Green SLC1A4 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.76

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
    • MONDO:0014725
    Tags
    • founder

    Green SLC1A4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)

    Green SLC1A4 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)

    Green SLC1A4 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 Green
    • ClinGen
    Phenotypes
    • spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725

    Green SLC1A4 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)