1. Panels
  2. Red cell disorders
  3. HSPA9
STRs in panel
Prev Next
Regions in panel
Prev Next

Red cell disorders

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported, however note some had the minor T allele of the synonymous SNP rs10117, which correlated with reduced mRNA expression, present in trans so some discussion regarding autosomal recessive MOI/pseudodominance in some families.

Note bi-allelic variants cause Even-plus syndrome.
Created: 11 Sep 2021, 10:30 a.m. | Last Modified: 11 Sep 2021, 10:30 a.m.
Panel Version: 0.108

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anaemia, sideroblastic, 4, MIM# 182170

Publications

Created: 11 Sep 2021, 10:30 a.m.
Last Modified: 11 Sep 2021, 10:30 a.m.
Panel version: 0.108

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Anaemia, sideroblastic, 4, MIM# 182170
OMIM
600548
Clinvar variants
Variants in HSPA9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Sep 2021, 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).

11 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HSPA9 were changed from sideroblastic anaemia; 182170 Sideroblastic anaemia 4; 182170 sideroblastic anaemia type 4; Sideroblastic anaemia type 4, 182170 to Anaemia, sideroblastic, 4, MIM# 182170

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes sideroblastic anaemia; 182170 Sideroblastic anaemia 4; 182170 sideroblastic anaemia type 4; Sideroblastic anaemia type 4, 182170 for gene: HSPA9

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSPA9 was added gene: HSPA9 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: HSPA9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSPA9 were set to 26491070 Phenotypes for gene: HSPA9 were set to sideroblastic anaemia; 182170 Sideroblastic anaemia 4; Sideroblastic anaemia type 4, 182170; 182170 sideroblastic anaemia type 4