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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

3 reviews

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 Amber

Phenotypes

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

Tags

Q2_25_ promote_green

OMIM

600548

Clinvar variants

Variants in HSPA9

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

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