SLC6A5

solute carrier family 6 member 5
OMIM: 604159, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red SLC6A5 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hyperekplexia 3, MIM#614618

Green SLC6A5 in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.3

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperekplexia 3, MIM# 614618

    Green SLC6A5 in Mendeliome


    Version 1.1902

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperekplexia 3, MIM# 614618

    Green SLC6A5 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperekplexia 3, MIM# 614618

    Green SLC6A5 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.131

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Tremors_Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Children's Hospital Neurology Department
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperekplexia 3, MIM# 614618

    Green SLC6A5 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperekplexia 3, 614618 (3)

    Green SLC6A5 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hyperekplexia 3

    Green SLC6A5 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperekplexia 3, 614618 (3)

    Amber SLC6A5 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Hyperekplexia 3, MIM#614618
    Tags
    • for review

    Green SLC6A5 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperekplexia 3, 614618 (3)