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Mendeliome

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

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia.
2/5 with developmental delay and abnormalities of the corpus callosum
Created: 7 Sep 2020, 5:46 a.m. | Last Modified: 7 Sep 2020, 5:46 a.m.
Panel Version: 0.4250

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two kindreds described segregating variants in this gene and sideroblastic anaemia; however note one of the variants was present in 3 hets in gnomad.
Created: 7 Sep 2020, 5:37 a.m. | Last Modified: 7 Sep 2020, 5:37 a.m.
Panel Version: 0.4250

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anemia, sideroblastic, 4, MIM# 182170

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anemia, sideroblastic, 4, MIM# 182170
  • Even-plus syndrome, MIM#616854
  • skeletal anomalies
  • congenital cardiac and renal anomalies: marked small nose
OMIM
600548
Clinvar variants
Variants in HSPA9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hspa9 has been classified as Green List (High Evidence).

7 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HSPA9 were changed from to Anemia, sideroblastic, 4, MIM# 182170; Even-plus syndrome, MIM#616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose

7 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HSPA9 were set to

7 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HSPA9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Sep 2020, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: HSPA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSPA9 was added gene: HSPA9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HSPA9 was set to Unknown