HSPA9

heat shock protein family A (Hsp70) member 9
OMIM: 600548, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green HSPA9 in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 1.13

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Even-plus syndrome, MONDO:0014801

    Green HSPA9 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 1.35

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Even-plus syndrome, MONDO:0014801

    Green HSPA9 in Mendeliome


    Version 2.588

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anemia, sideroblastic, 4, MIM# 182170
    • Even-plus syndrome, MONDO:0014801

    Green HSPA9 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 2.9

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Anaemia, sideroblastic, 4, MIM# 182170
    • Even-plus syndrome, MIM# 616854

    Amber HSPA9 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.145

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Even-plus syndrome, MONDO:0014801

    Green HSPA9 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.151

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Even-plus syndrome, MONDO:0014801

    Green HSPA9 in Red cell disorders


    Level 2: Haematological disorders
    Version 2.4

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    Phenotypes
    • Anaemia, sideroblastic, 4, MIM# 182170

    Green HSPA9 in Fetal anomalies


    Version 2.81

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Literature
    Phenotypes
    • Even-plus syndrome - MIM#616854
    • Anemia, sideroblastic, 4- #182170