Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

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

Sue White (Victorian Clinical Genetics Services)

I don't know

2 patients with dev delay in 5 published patients with Even-plus syndrome
Created: 7 Sep 2020, 6:51 a.m. | Last Modified: 7 Sep 2020, 6:51 a.m.
Panel Version: 0.2971
Sources: Literature
Created: 7 Sep 2020, 6:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM 616854; skeletal anomalies; congenital cardiac and renal anom

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Even-plus syndrome, OMIM 616854
  • skeletal anomalies
  • congenital cardiac and renal anom
OMIM
600548
Clinvar variants
Variants in HSPA9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HSPA9 were changed from OMIM 616854; skeletal anomalies; congenital cardiac and renal anom to Even-plus syndrome, OMIM 616854; skeletal anomalies; congenital cardiac and renal anom

7 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

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

7 Sep 2020, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: HSPA9 was added gene: HSPA9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to 32869452; 26598328 Phenotypes for gene: HSPA9 were set to OMIM 616854; skeletal anomalies; congenital cardiac and renal anom Penetrance for gene: HSPA9 were set to Complete Review for gene: HSPA9 was set to AMBER