AMFR

autocrine motility factor receptor
OMIM: 603243, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red AMFR in Primary immunodeficiency or monogenic inflammatory bowel disease


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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Severe VZV
  • Varicella
  • HLH
  • Hemophagocytic lymphohistyocytosis
Green AMFR in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.30
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Spastic paraplegia 89, autosomal recessive, OMIM:620379
Green AMFR in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AMFR-related spastic paraplegia with/without neurodevelopmental delay