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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Glycine encephalopathy with normal serum glycine, OMIM:617301
Green SLC6A9 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Glycine encephalopathy with normal serum glycine, OMIM:617301
  • Arthrogryposis, MONDO:0008779
Green SLC6A9 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Glycine Encephalopathy with Arthrogryposis
    Green SLC6A9 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Glycine encephalopathy with normal serum glycine, OMIM:617301
    Green SLC6A9 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glycine encephalopathy with normal serum glycine, 617301