FERMT1

fermitin family member 1
OMIM: 607900, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green FERMT1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Kindler syndrome

Amber FERMT1 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.61

review Not set
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Kindler syndrome

Green FERMT1 in COVID-19 research


Level 2: Viral research
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • FERMT1 deficiency (Kindler syndrome)
  • Kindler syndrome, 173650
  • Diseases of Immune Dysregulation
  • Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling

Green FERMT1 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Expert Review
Phenotypes
  • Kindler syndrome,173650
  • Kindler syndrome (a separate category of Epidermolysis bullosa)

Green FERMT1 in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Kindler syndrome, OMIM:173650

Red FERMT1 in Primary immunodeficiency


Version 2.478
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
Phenotypes
  • Kindler syndrome, 173650
  • FERMT1 deficiency (Kindler syndrome)
  • Diseases of Immune Dysregulation
  • Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling