Genomics England
GMS Panels
Panels
Genes and Entities

HSPA9

heat shock protein family A (Hsp70) member 9
OMIM: 600548
PanelMode of inheritanceDetails
2 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Even-plus syndrome, OMIM:616854
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
sideroblastic anaemia, 182170 Sideroblastic anaemia 4, 182170 sideroblastic anaemia type 4, Sideroblastic anaemia type 4, 182170