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2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37440-Loss 1

Mitochondrial disorders
Gene: HSPA9

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

4 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 11:31 a.m. | Last Modified: 11 Mar 2026, 11:31 a.m.

Panel Version: 9.43

Created: 11 Mar 2026, 11:31 a.m.
Last Modified: 11 Mar 2026, 11:31 a.m.
Panel version: 9.43

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: This gene has already been promoted to green rating on R63 Possible mitochondrial disorder - nuclear genes panel (https://panelapp.genomicsengland.co.uk/panels/539/gene/HSPA9/) in agreement with the NHS Genomic Medicine Service. Hence, this gene should be promoted to green rating on this panel in the next GMS update.
Created: 6 Jun 2025, 11:57 a.m. | Last Modified: 6 Jun 2025, 11:57 a.m.

Panel Version: 9.12

As reviewed by Hannah Knight (NIHR BioResource - University of Cambridge) on R63 Possible mitochondrial disorder - nuclear genes panel (https://panelapp.genomicsengland.co.uk/panels/539/gene/HSPA9/) there are more than three unrelated cases identified with biallelic HSPA9 variants and reported with Even-plus syndrome (MIM #616854).

However, there are only two unrelated families identified with monoallelic HSPA9 variants and reported with sideroblastic anemia-4 (MIM #182170) (PMID:26491070).
Created: 6 Jun 2025, 11:50 a.m. | Last Modified: 6 Jun 2025, 11:50 a.m.

Panel Version: 9.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Even-plus syndrome, OMIM:616854; Anemia, sideroblastic, 4, OMIM:182170

Publications

Created: 6 Jun 2025, 11:50 a.m.
Last Modified: 6 Jun 2025, 11:50 a.m.
Panel version: 9.9

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed in the Analysis & Interpretation meeting and decided to make this red for now.
Created: 25 Apr 2016, 12:18 p.m.

Comment on list classification: PMID: 26598328 describes the identification of biallelic variants in HSPA9 in three patients (two of which are siblings), with EVEN-PLUS syndrome (a proposed syndrome name), and discussed the evidence for likely effect on HSPA9 function due to its role as a mitochondrial chaperone.
Created: 15 Feb 2016, 11:46 a.m.

Comment on mode of inheritance: One patient was compound heterozygous, the two siblings were homozygous for a seperate mutation. Unaffected parents were heterozygous.
Created: 15 Feb 2016, 11:44 a.m.

Created: 15 Feb 2016, 11:42 a.m.

Panel version: 0.293

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Feb 2016, 8:52 a.m.

Panel version: 0.24

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Even-plus syndrome, OMIM:616854
Anemia, sideroblastic, 4, OMIM:182170

OMIM

600548

Clinvar variants

Variants in HSPA9

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

11 Mar 2026, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: HSPA9.

11 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to HSPA9. Source Expert Review Green was added to HSPA9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: hspa9 has been classified as Amber List (Moderate Evidence).

6 Jun 2025, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: HSPA9.

6 Jun 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HSPA9 were changed from EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings to Even-plus syndrome, OMIM:616854; Anemia, sideroblastic, 4, OMIM:182170

6 Jun 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: HSPA9 were set to PMID: 26598328

25 Apr 2016, Gel status: 1