Disorders of immune dysregulation
Gene: FERMT1
The IUIS IEI committee classifies FERMT1 deficiency (aka Kindler syndrome) as a disease of immune dysregulation under the Regulatory T Cell Defects subcategory.
Sources: Expert listCreated: 16 Nov 2024, 3:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kindler syndrome MONDO:0008260
Publications
Variants in this GENE are reported as part of current diagnostic practice
Kindler syndrome is an autosomal recessive dermatosis characterised by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. Well established gene-disease association.Created: 13 Feb 2021, 12:02 a.m. | Last Modified: 13 Feb 2021, 12:02 a.m.
Panel Version: 0.6331
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kindler syndrome, MIM# 173650
Publications
Gene: fermt1 has been classified as Green List (High Evidence).
Gene: fermt1 has been classified as Green List (High Evidence).
gene: FERMT1 was added gene: FERMT1 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FERMT1 were set to 34512655 Phenotypes for gene: FERMT1 were set to Kindler syndrome MONDO:0008260 Review for gene: FERMT1 was set to GREEN gene: FERMT1 was marked as current diagnostic