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Newborns main panel

Gene: HSPA9

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36094340 - 1 child. PMID: 26491070 - adult cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Anemia, sideroblastic, 4
OMIM
600548
Clinvar variants
Variants in HSPA9
Penetrance
None
Panels with this gene

History Filter Activity

2 Oct 2023, Gel status: 2

Removed Source

Mafalda Gomes (Genomics England Curator)

Source 4 was removed from HSPA9.

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Anemia, sideroblastic, 4 for gene: HSPA9

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HSPA9. Added phenotypes Anemia, sideroblastic, 4 for gene: HSPA9 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to HSPA9. Added phenotypes Anemia, sideroblastic, 4 for gene: HSPA9 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

9 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HSPA9. Added phenotypes Anemia, sideroblastic, 4 for gene: HSPA9 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to HSPA9. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Anemia, sideroblastic, 4 for gene: HSPA9

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: HSPA9 was added gene: HSPA9 was added to Newborns main panel. Sources: 4 Mode of inheritance for gene: HSPA9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown