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Mitochondrial disease

Gene: HSPA9

Green List (high evidence)

HSPA9 (heat shock protein family A (Hsp70) member 9)
EnsemblGeneIds (GRCh38): ENSG00000113013
EnsemblGeneIds (GRCh37): ENSG00000113013
OMIM: 600548, Gene2Phenotype
HSPA9 is in 7 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • even-plus syndrome MONDO:0014801
  • Disorders of mitochondrial protein quality control
OMIM
600548
Clinvar variants
Variants in HSPA9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HSPA9 was added gene: HSPA9 was added to Mitochondrial disease. Sources: Expert Review Green Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to 29884839; 21123823; 26598328 Phenotypes for gene: HSPA9 were set to even-plus syndrome MONDO:0014801; Disorders of mitochondrial protein quality control