ISG15

ISG15 ubiquitin-like modifier
OMIM: 147571, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ISG15 in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Immunodeficiency 38, 616126
  • idiopathic basal ganglia calcification
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria, brain calcifications
  • Defects in Intrinsic and Innate Immunity
Green ISG15 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Immunodeficiency 38, 616126
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • idiopathic basal ganglia calcification
  • Susceptibility to mycobacteria, brain calcifications
  • Defects in Intrinsic and Innate Immunity
Green ISG15 in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Immunodeficiency 38 616126
Red ISG15 in Adult onset dystonia, chorea or related movement disorder


Version 3.18
Latest signed off version: v3.12 (31 Jul 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
Phenotypes
  • Immunodeficiency 38 616126
Red ISG15 in Childhood onset dystonia, chorea or related movement disorder


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • Expert Review Red
  • London North GLH
Phenotypes
  • Immunodeficiency 38 616126
Green ISG15 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 38, 616126