SEC61B

Sec61 translocon beta subunit
OMIM: 609214, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber SEC61B in Ductal plate malformation


Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • Association with polycystic liver disease 1 with or without renal cysts
Amber SEC61B 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 Amber
  • NHS GMS
  • NHS GMS
  • Literature
  • Expert list
Phenotypes
  • Association with polycystic liver disease 1 with or without renal cysts
  • Polycystic liver disease 1, MONDO:0008265