PRKCSH

protein kinase C substrate 80K-H
OMIM: 177060, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber PRKCSH in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Polycystic liver disease 1 (MIM#174050)
Green PRKCSH in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Polycystic liver disease 1 (MIM#174050)
Green PRKCSH in Renal Macrocystic Disease Level 2: Renal and urinary tract disorders Version 0.69 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Phenotypes Polycystic liver disease 1, MIM# 174050, with or without kidney cysts
Green PRKCSH in Polycystic liver disease Level 2: Gastroenterological disorders Version 1.8 Component of the following Super Panels: Liverome Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic Liver Disease 1 with or without kidney cysts (174050)
Red PRKCSH in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Polycystic liver disease
Red PRKCSH in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Polycystic liver disease