SEC63

SEC63 homolog, protein translocation regulator
OMIM: 608648, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber SEC63 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 2 (MIM#617004)

Green SEC63 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Polycystic liver disease 2, MIM# 617004

Green SEC63 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
    • Expert list
    Phenotypes
    • Polycystic liver disease 2, MIM#617004

    Green SEC63 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 2 with or without kidney cysts (617004)

    Red SEC63 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 SEC63 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Polycystic liver disease