PDIA6

protein disulfide isomerase family A member 6
OMIM: 611099, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber PDIA6 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Amber PDIA6 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Amber PDIA6 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Amber PDIA6 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Amber PDIA6 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Amber PDIA6 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes