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 1.80

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
  • Other autoinflammatory diseases with known genetic defect
  • Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome
  • Autoinflammatory Disorders
  • Histiocytosis-lymphadenopathy plus syndrome 602782

Green SLC29A3 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome

Green SLC29A3 in Pigmentary skin disorders


Version 1.16
Latest signed off version: v1.4 (15 Oct 2020)

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 1.63

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 1.33

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, 602782

Amber SLC29A3 in Hypogonadotropic hypogonadism idiopathic


Version 1.47
Latest signed off version: v1.4 (4 Mar 2020)

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


Version 2.477
Latest signed off version: v2.1 (24 Feb 2020)

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


Version 2.43
Latest signed off version: v2.2 (25 Feb 2020)

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

Amber SLC29A3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.129
Latest signed off version: v3.2 (13 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Tags
  • Q4_21_NHS_review
  • Q4_21_rating

Green SLC29A3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.137
Latest signed off version: v2.2 (13 Feb 2020)

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

    Amber SLC29A3 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
    • H syndrome, MONDO:0011273
    Tags
    • for-review

    Red SLC29A3 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.199
    Latest signed off version: v2.5 (13 Feb 2020)

    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 Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Histiocytosis-lymphadenopathy plus syndrome, 602782