1. Genes and Genomic Entities
  2. SLC29A3

SLC29A3

solute carrier family 29 member 3
OMIM: 612373, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green SLC29A3 in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
  • Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome
  • Autoinflammatory Disorders
Green SLC29A3 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
  • Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome
Green SLC29A3 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Green SLC29A3 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
  • Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome
Green SLC29A3 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.42

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Amber SLC29A3 in Hypogonadotropic hypogonadism (GMS)


Level 2: Endocrinology
Version 4.7
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
  • H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism
Green SLC29A3 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.88
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
  • Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome
  • Autoinflammatory Disorders
Green SLC29A3 in Monogenic diabetes


Level 2: Endocrinology
Version 3.14
Latest signed off version: v3.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Green SLC29A3 in Arthrogryposis


Level 2: Neurology
Version 9.31
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Green SLC29A3 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
    Green SLC29A3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
    • H syndrome, MONDO:0011273
    Red SLC29A3 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
    • Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism
    Green SLC29A3 in Autoinflammatory disorders


    Level 2: Immunology
    Version 2.35
    Latest signed off version: v2.0 (1 May 2024)

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