FERMT1

fermitin family member 1
OMIM: 607900, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green FERMT1 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.44	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 1.75	review	Not set	Sources Expert Review Amber Expert list Phenotypes Kindler syndrome
Green FERMT1 in COVID-19 research Level 2: Viral research Version 1.142	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 1.11	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 2.7 Latest signed off version: v2.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Kindler syndrome, OMIM:173650
Green FERMT1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 Phenotypes Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling Kindler syndrome, 173650 Diseases of Immune Dysregulation Kindler syndrome, OMIM:173650 FERMT1 deficiency (Kindler syndrome)