1. Genes and Genomic Entities
  2. SLC38A3

SLC38A3

solute carrier family 38 member 3
OMIM: 604437, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green SLC38A3 in Severe microcephaly


Level 2: Neurology
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 102, 619881
Green SLC38A3 in DDG2P


Version 6.426
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SLC38A3-associated epileptic encephalopathy.
    Green SLC38A3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 102, 619881
    Green SLC38A3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    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
    • Expert Review Green
    • NHS GMS
    • Other
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 102, 619881