1. Panels
  2. Deafness and congenital structural abnormalities
  3. HSPA9
STRs in panel
Prev Next

Deafness and congenital structural abnormalities

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added missing phenotype
Created: 12 Feb 2018, 11:22 a.m.
Created: 12 Feb 2018, 11:22 a.m.

Panel version: 1.5

Richard Scott (Genomics England Curator)

I don't know

Only two families reported to date but highly distinctive facial appearance makes it appropriate to report diagnostically.
Created: 26 Oct 2016, 4 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
616854

Publications

Created: 26 Oct 2016, 4 a.m.

Panel version: 0.118

Details

Mode of Inheritance
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
OMIM
600548
Clinvar variants
Variants in HSPA9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Feb 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for HSPA9 were set to Even-plus syndrome, 616854; EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

26 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Oct 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

HSPA9 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review

26 Oct 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

HSPA9 was created by richardhywel