HSPA9

heat shock protein family A (Hsp70) member 9
OMIM: 600548, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green HSPA9 in Deafness and congenital structural abnormalities Level 3: Deafness and congenital structural abnormalities Level 2: Hearing and ear disorders Version 1.37	review	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
Green HSPA9 in Rare anaemia Level 2: Haematology Version 4.10 Latest signed off version: v4.7 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Anemia, sideroblastic, 4, OMIM:182170 sideroblastic anemia, MONDO:0015194 Tags Q3_26_MOI
Amber HSPA9 in Skeletal dysplasia Level 2: Musculoskeletal Version 10.8 Latest signed off version: v10.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Even-plus syndrome, OMIM:616854 even-plus syndrome, MONDO:0014801 epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome Tags Q3_26_promote_green
Amber HSPA9 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Even-plus syndrome 616854
Green HSPA9 in Likely inborn error of metabolism Level 2: Metabolic Version 9.33 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Anemia, sideroblastic, 4, OMIM:182170 sideroblastic anemia, MONDO:0015194 Even-plus syndrome, OMIM:616854 even-plus syndrome, MONDO:0014801 Tags Q3_26_MOI
Green HSPA9 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.25 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Anemia, sideroblastic, 4, OMIM:182170 sideroblastic anemia, MONDO:0015194 Even-plus syndrome, OMIM:616854 even-plus syndrome, MONDO:0014801 Tags Q3_26_MOI
Green HSPA9 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.7 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Anemia, sideroblastic, 4, OMIM:182170 Even-plus syndrome, OMIM:616854
Green HSPA9 in Mitochondrial disorders Level 2: Mitochondrial Version 10.25 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Anemia, sideroblastic, 4, OMIM:182170 sideroblastic anemia, MONDO:0015194 Even-plus syndrome, OMIM:616854 even-plus syndrome, MONDO:0014801 Tags Q3_26_MOI