1. Genes and Genomic Entities
  2. SENP7

SENP7

SUMO1/sentrin specific peptidase 7
OMIM: 612846, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber SENP7 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • arthrogryposis multiplex congenita, MONDO:0015168
  • Recurrent infections, HP:0002719
Tags
  • Q1_26_promote_green
Amber SENP7 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • arthrogryposis multiplex congenita, MONDO:0015168
Tags
  • Q1_26_promote_green
Green SENP7 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
Tags
  • gene-checked
Amber SENP7 in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.31
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • arthrogryposis multiplex congenita, MONDO:0015168
    • Recurrent infections, HP:0002719
    Tags
    • Q1_26_promote_green