1. Genes and Genomic Entities
  2. CARMIL2

CARMIL2

capping protein regulator and myosin 1 linker 2
OMIM: 610859, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green CARMIL2 in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • warts, molluscum contagiosum, and T cell dysfunction
  • Combined immunodeficiency
  • Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy
  • Diseases of Immune Dysregulation
  • EBV+ disseminated smooth muscle tumours
Green CARMIL2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.85
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • ESID Registry 20171117
Phenotypes
  • Combined immunodeficiency
  • warts, molluscum contagiosum, and T‐cell dysfunction
  • EBV+ disseminated smooth muscle tumours
  • Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy
  • Diseases of Immune Dysregulation