PanelApp
  1. Genes and Genomic Entities
  2. SLC5A6

SLC5A6

solute carrier family 5 member 6
OMIM: 604024, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SLC5A6 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Parkinsonism-dystonia, infantile, 1 MIM#613135

Green SLC5A6 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903
  • Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973

Green SLC5A6 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay
    • epilepsy
    • neurodegeneration
    • Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973

    Green SLC5A6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay
    • epilepsy
    • neurodegeneration
    • Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973

    Green SLC5A6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay
    • epilepsy
    • neurodegeneration
    • Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973

    Green SLC5A6 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903

    Green SLC5A6 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973

    Green SLC5A6 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
    Tags
    • treatable
    • metabolic