PanelApp (test)
  1. Genes and Genomic Entities
  2. SLC6A9

SLC6A9

solute carrier family 6 member 9
OMIM: 601019, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SLC6A9 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glycine encephalopathy with normal serum glycine, MIM#617301
    • arthrogryposis

    Green SLC6A9 in Mendeliome


    Version 1.1902

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycine encephalopathy with normal serum glycine, MIM# 617301

    Green SLC6A9 in Neurotransmitter Defects


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Atypical glycine encephalopathy MONDO:0015010
    • Glycine neurotransmitter disorders

    Green SLC6A9 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
    • Genetic Health Queensland
    Phenotypes
    • Glycine encephalopathy with normal serum glycine 617301

    Green SLC6A9 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Glycine encephalopathy with normal serum glycine 617301
    • Arthrogryposis