FERMT1

fermitin family member 1
OMIM: 607900, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FERMT1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.16

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 1.59

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

Green FERMT1 in Epidermolysis bullosa

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • 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 0.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Kindler syndrome (a separate category of Epidermolysis bullosa)
  • Kindler syndrome,173650