Disorders of immune dysregulation
Gene: FERMT1EnsemblGeneIds (GRCh38): ENSG00000101311
EnsemblGeneIds (GRCh37): ENSG00000101311
OMIM: 607900, Gene2Phenotype
FERMT1 is in 7 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Kindler syndrome MONDO:0008260
- OMIM
- 607900
- Clinvar variants
- Variants in FERMT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fermt1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fermt1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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