SEC63

SEC63 homolog, protein translocation regulator
OMIM: 608648, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SEC63 in Ductal plate malformation


Version 1.18

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 2 with or without kidney cysts (617004)

Green SEC63 in Polycystic liver disease interim


Version 1.23
Latest signed off version: v1.4 (4 Mar 2020)

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 2, OMIM:617004

Red SEC63 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 2.26
Latest signed off version: v2.2 (19 Feb 2020)

Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert

    Red SEC63 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.96

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert

    Red SEC63 in Unexplained paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red

    Red SEC63 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.146

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • UKGTN
    • Expert list
    Phenotypes
    • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel

    Red SEC63 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.42
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert list
    • UKGTN
    Phenotypes
    • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel