1. Genes and Genomic Entities
  2. HSPA9

HSPA9

heat shock protein family A (Hsp70) member 9
OMIM: 600548, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green HSPA9 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.37

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Even-plus syndrome, 616854
  • EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS
Green HSPA9 in Rare anaemia


Level 2: Haematology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • sideroblastic anaemia
  • 182170 Sideroblastic anaemia 4
  • 182170 sideroblastic anaemia type 4
  • Sideroblastic anaemia type 4, 182170
Amber HSPA9 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Even-plus syndrome 616854
Green HSPA9 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Even-plus syndrome, OMIM:616854
    Green HSPA9 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Even-plus syndrome, OMIM:616854
    • Anemia, sideroblastic, 4, OMIM:182170
    Green HSPA9 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Anemia, sideroblastic, 4, OMIM:182170
    • Even-plus syndrome, OMIM:616854
    Amber HSPA9 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Even-plus syndrome, OMIM:616854
    • Anemia, sideroblastic, 4, OMIM:182170
    Tags
    • Q2_25_ promote_green