1. Genes and Genomic Entities
  2. PRKCSH

PRKCSH

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green PRKCSH in Ductal plate malformation


Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Polycystic Liver Disease 1 with or without kidney cysts (174050)
Green PRKCSH in Polycystic liver disease


Version 1.31
Latest signed off version: v1.26 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • NHS GMS
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Polycystic liver disease 1 OMIM:174050
Amber PRKCSH 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert
    Phenotypes
    • Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
    Tags
    • Q3_23_promote_green
    • Q3_23_NHS_review
    Red PRKCSH 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert
    • Expert Review Red
    Amber PRKCSH in Unexplained young onset end-stage renal disease


    Version 3.42
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    Phenotypes
    • Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
    Tags
    • Q4_23_promote_green
    Red PRKCSH in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert list