PDIA6

protein disulfide isomerase family A member 6
OMIM: 611099, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber PDIA6 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	2 reviews	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 1.2302	2 reviews	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	2 reviews	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 1.26 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	2 reviews	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 0.136 Component of the following Super Panels: Metabolic Disorders Superpanel	2 reviews	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 1.313	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes