SLC30A7

solute carrier family 30 member 7
OMIM: 611149, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red SLC30A7 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Ziegler-Huang syndrome, MIM# 620501

    Amber SLC30A7 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.62

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Joubert syndrome (MONDO:0018772), SLC30A7-related

    Amber SLC30A7 in Joubert syndrome and other neurological ciliopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.28

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Joubert syndrome (MONDO:0018772), SLC30A7-related

    Amber SLC30A7 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Joubert syndrome (MONDO:0018772), SLC30A7-related

    Amber SLC30A7 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.281

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Joubert syndrome (MONDO:0018772), SLC30A7-related

    Red SLC30A7 in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Ziegler-Huang syndrome, MIM# 620501