SLC35A3

solute carrier family 35 member A3
OMIM: 605632, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SLC35A3 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arthrogryposis, impaired intellectual development, and seizures, OMIM #615553

Green SLC35A3 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.58

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, mental retardation, and seizures OMIM #615553
    • Skeletal dysplasia
    • Congenital disorder of glycosylation

    Green SLC35A3 in Mendeliome


    Version 1.2302

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, mental retardation, and seizures OMIM #615553
    • Skeletal dysplasia
    • Congenital disorder of glycosylation

    Amber SLC35A3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Arthrogryposis, mental retardation, and seizures
    • OMIM #615553

    Amber SLC35A3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Arthrogryposis, mental retardation, and seizures OMIM #615553
    • Skeletal dysplasia

    Green SLC35A3 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
    • Arthrogryposis, mental retardation, and seizures (MIM615553)

    Green SLC35A3 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Arthrogryposis, impaired intellectual development, and seizures MIM#615553

    Green SLC35A3 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Arthrogryposis, mental retardation, and seizures (MIM615553)