PKHD1

PKHD1, fibrocystin/polyductin
OMIM: 606702, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green PKHD1 in Cholestasis Level 2: Gastroenterological disorders Version 1.0 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Green PKHD1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Green PKHD1 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Nephrocalcinosis, MONDO:0001567, PKHD1-related
Green PKHD1 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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Green PKHD1 in Renal Macrocystic Disease Level 2: Renal and urinary tract disorders Version 0.77 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Cystic v38.1.0 Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Red PKHD1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	Not set	Sources Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services Victorian Clinical Genetics Services
Green PKHD1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polycystic kidney and hepatic disease, 263200 (3)
Green PKHD1 in Polycystic liver disease Level 2: Gastroenterological disorders Version 1.8 Component of the following Super Panels: Liverome Superpanel	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polycystic kidney disease 4 with or without hepatic disease (263200)
Green PKHD1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Polycystic kidney and hepatic disease
Green PKHD1 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Green PKHD1 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polycystic kidney disease 4, with or without hepatic disease MIM#263200
Red PKHD1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Green PKHD1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polycystic kidney and hepatic disease, 263200 (3)