SLC6A20

solute carrier family 6 member 20
OMIM: 605616, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red SLC6A20 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • risk of HSCR
Red SLC6A20 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert
    Red SLC6A20 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hyperglycinuria 138500
    • Iminoglycinuria, digenic 242600
    Tags
    • refuted
    Green SLC6A20 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Hyperglycinuria
    Tags
    • gene-checked
    • Q4_23_expert_review
    • refuted
    • Q4_23_demote_red
    Red SLC6A20 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Red SLC6A20 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Next Generation Children Project
    • Expert list
    Phenotypes
    • Iminoglycinuria, digenic, 242600
    • Hyperglycinuria, 138500
    Tags
    • refuted