PanelApp
  1. Genes and Genomic Entities
  2. SLC29A3

SLC29A3

solute carrier family 29 member 3
OMIM: 612373, ClinGen, DECIPHER

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green SLC29A3 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.244

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome - MIM#602782

Green SLC29A3 in Vasculitis


Level 2: Immunological disorders
Version 0.95

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SLC29A3 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782

    Green SLC29A3 in Mendeliome


    Version 1.3795

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782

    Green SLC29A3 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.40

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782

    Red SLC29A3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome
    • OMIM #602782

    Green SLC29A3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.364

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome 602782

    Green SLC29A3 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.152

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, MIM#602782

    Amber SLC29A3 in Stickler Syndrome


    Level 2: Ophthalmological disorders
    Version 1.12

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert list
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome - MIM#602782

    Green SLC29A3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)

    Green SLC29A3 in Pituitary hormone deficiency

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.166

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782

    Green SLC29A3 in Fetal anomalies


    Version 1.481

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review
    • Expert list
    Phenotypes
    • H syndrome, MONDO:0011273
    • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782

    Green SLC29A3 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome MIM#602782

    Green SLC29A3 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.8

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Disorders of ectonucleotide and nucleic acid metabolism
    • H syndrome MONDO:0011273

    Green SLC29A3 in Hypogonadotropic hypogonadism

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.74

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782