HSPA9

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green HSPA9 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.145 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Even-plus syndrome, MIM# 616854 skeletal anomalies congenital cardiac and renal anomalies: marked small nose
Green HSPA9 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Even-plus syndrome, MIM# 616854 skeletal anomalies congenital cardiac and renal anomalies: marked small nose
Green HSPA9 in Mendeliome Version 1.2302	2 reviews	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
Green HSPA9 in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes even-plus syndrome MONDO:0014801 Disorders of mitochondrial protein quality control
Amber HSPA9 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Even-plus syndrome, OMIM 616854 skeletal anomalies congenital cardiac and renal anom
Green HSPA9 in Red cell disorders Level 2: Haematological disorders Version 1.29	1 review	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
Green HSPA9 in Fetal anomalies Version 1.313	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Even-plus syndrome - MIM#616854 Anemia, sideroblastic, 4- #182170