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  1. Genes and Genomic Entities
  2. GALNT3

GALNT3

polypeptide N-acetylgalactosaminyltransferase 3
OMIM: 601756, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GALNT3 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.78

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900

    Green GALNT3 in Mendeliome


    Version 1.3499

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900

    Green GALNT3 in Calcium and Phosphate disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 1.28

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    Phenotypes
    • Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900

    Green GALNT3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Tumoral calcinosis, hyperphosphatemic, familial I 211900
    • Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900

    Green GALNT3 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
    Tags
    • treatable
    • endocrine

    Green GALNT3 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    Phenotypes
    • Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900