SLC30A7:Ensemblv90

solute carrier family 30 member 7
OMIM: 611149, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red SLC30A7 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.131

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 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 1.96

    1 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 1.33

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

    Amber SLC30A7 in Mendeliome


    Version 1.3802

    2 reviews 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 0.297

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 1 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 1.87

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

    Amber SLC30A7 in Fetal anomalies


    Version 1.482

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

    Red SLC30A7 in Bone Marrow Failure


    Level 2: Haematological disorders
    Version 2.0

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

    Amber SLC30A7 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

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

    Amber SLC30A7 in Joubert syndrome and other neurological ciliopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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

    Amber SLC30A7 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

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

    Red SLC30A7 in Growth failure


    Version 2.0

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