PDIA6

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PDIA6 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.94	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes multiple congenital anomalies, MONDO:0019042, PDIA6-related
Green PDIA6 in Mendeliome Version 1.3512	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes multiple congenital anomalies, MONDO:0019042, PDIA6-related
Green PDIA6 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Version 1.18	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies, MONDO:0019042, PDIA6-related
Green PDIA6 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.45 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies, MONDO:0019042, PDIA6-related
Green PDIA6 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.152 Component of the following Super Panels: Metabolic Disorders Superpanel	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies, MONDO:0019042, PDIA6-related
Green PDIA6 in Fetal anomalies Version 1.465	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies, MONDO:0019042, PDIA6-related