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 1.9

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 2.36
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert

    Green SLC6A20 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.542

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hyperglycinuria 138500
    • Iminoglycinuria, digenic 242600

    Green SLC6A20 in Inborn errors of metabolism


    Version 2.263
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Hyperglycinuria

    Red SLC6A20 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.246
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SLC6A20 in Severe Paediatric Disorders


    Version 1.127

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