PKD1

polycystin 1, transient receptor potential channel interacting
OMIM: 601313, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red PKD1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Amber PKD1 in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney disease, adult type I, OMIM:173900
Green PKD1 in Ductal plate malformation Version 1.29	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Expert list Eligibility statement prior genetic testing UKGTN Phenotypes Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Green PKD1 in Polycystic liver disease Version 1.31 Latest signed off version: v1.26 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS NHS GMS Radboud University Medical Center, Nijmegen Expert list Eligibility statement prior genetic testing UKGTN Phenotypes Polycystic kidney disease 1, OMIM:173900 Caroli disease, MONDO:0010913
Green PKD1 in Cystic kidney disease Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 4.24 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cystic renal disease Renal superpanel - broad Renal superpanel - narrow	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert UKGTN Radboud University Medical Center, Nijmegen Phenotypes Polycystic kidney disease, adult type I, 173900 Autosomal recessive polycystic kidney disease (ARPKD) Autosomal dominant polycystic kidney disease (ADPKD)
Green PKD1 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.119 Component of the following Super Panels: Renal superpanel - broad	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Expert Review Expert list Phenotypes Polycystic kidney disease, adult type I, 173900 Autosomal recessive polycystic kidney disease (ARPKD) Autosomal dominant polycystic kidney disease (ADPKD)
Red PKD1 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH Phenotypes Connective Tissue Disorders Polycystic kidney disease, adult type I,173900
Red PKD1 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.127	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH Radboud University Medical Center, Nijmegen UKGTN Expert Review Phenotypes Polycystic kidney disease, adult type I,173900 Connective Tissue Disorders
Green PKD1 in Unexplained young onset end-stage renal disease Version 3.41 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Polycystic kidney disease, adult type I, 173900 Autosomal recessive polycystic kidney disease (ARPKD) Autosomal dominant polycystic kidney disease (ADPKD)
Green PKD1 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Polycystic kidney disease, 173900 Autosomal recessive polycystic kidney disease (ARPKD) Autosomal dominant polycystic kidney disease (ADPKD)
Green PKD1 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.171	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Polycystic kidney disease, adult type I, 173900 Autosomal recessive polycystic kidney disease (ARPKD) Autosomal dominant polycystic kidney disease (ADPKD)
Green PKD1 in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert review green Literature Phenotypes Congenital or cystic renal disease Nephropathy of unknown origin Polycystic kidney disease 1 MIM 173900
Green PKD1 in Renal ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 3.5 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Renal superpanel - broad Renal superpanel - narrow	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney disease, adult type I, 173900 Autosomal recessive polycystic kidney disease (ARPKD) Autosomal dominant polycystic kidney disease (ADPKD)
Red PKD1 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green PKD1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Polycystic kidney disease 1, 173900