SLC5A5

solute carrier family 5 member 5
OMIM: 601843, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber SLC5A5 in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Follicular thyroid adenoma
  • Thyroid dyshormonogenesis 1 274400
Red SLC5A5 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.138
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Thyroid dyshormonogenesis 1, OMIM:274400
Green SLC5A5 in DDG2P


Version 6.424
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
    • THYROID HORMONOGENESIS DEFECT I 274400
    Amber SLC5A5 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    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
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO
    Green SLC5A5 in Congenital hypothyroidism


    Level 2: Endocrinology
    Version 3.3
    Latest signed off version: v3.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Thyroid dyshormonogenesis 1, 274400
    • HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1
    • Apparent athyreosis on nuclear medicine scan
    • goitre
    • childhood onset hypothyroidism