1. Genes and Genomic Entities
  2. SEC63

SEC63

SEC63 homolog, protein translocation regulator
OMIM: 608648, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green SEC63 in Ductal plate malformation


Version 1.31

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


Level 2: Gastrohepatology
Version 1.32
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 2, OMIM:617004
Green SEC63 in Cystic kidney disease


Level 2: Renal
Version 8.5
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert
    Phenotypes
    • Polycystic liver disease 2 with or without kidney cysts, OMIM:617004
    Red SEC63 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.124

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert
    • Expert Review Red
    Red SEC63 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		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 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  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