PDIA6

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber PDIA6 in Neonatal diabetes Level 2: Endocrinology Version 5.26 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Polycystic kidney dysplasia, HP:0000113 Diabetes mellitus, HP:0000819 Microcephaly, HP:0000252 Tags Q2_26_promote_green
Amber PDIA6 in Cystic kidney disease Level 2: Renal Version 8.13 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Polycystic kidney dysplasia, HP:0000113 Diabetes mellitus, HP:0000819 Microcephaly, HP:0000252 Tags Q2_26_promote_green
Amber PDIA6 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.46 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Polycystic kidney dysplasia, HP:0000113 Diabetes mellitus, HP:0000819 Microcephaly, HP:0000252
Green PDIA6 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.186 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay Tags gene-checked
Red PDIA6 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy
Amber PDIA6 in Renal ciliopathies Level 2: Renal Version 4.19 Latest signed off version: v4.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Polycystic kidney dysplasia, HP:0000113 Diabetes mellitus, HP:0000819 Microcephaly, HP:0000252 Tags Q2_26_promote_green
Amber PDIA6 in Skeletal ciliopathies Level 2: Musculoskeletal Version 6.12 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes