1. Genes and Genomic Entities
  2. SLC6A17

SLC6A17

solute carrier family 6 member 17
OMIM: 610299, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SLC6A17 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
Green SLC6A17 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 616269
    Green SLC6A17 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48