Disorders of immune dysregulation

Gene: FERMT1

Green List (high evidence)

FERMT1 (fermitin family member 1)
EnsemblGeneIds (GRCh38): ENSG00000101311
EnsemblGeneIds (GRCh37): ENSG00000101311
OMIM: 607900, Gene2Phenotype
FERMT1 is in 7 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 list
Created: 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)

Green List (high evidence)

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

16 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fermt1 has been classified as Green List (High Evidence).

16 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fermt1 has been classified as Green List (High Evidence).

16 Nov 2024, Gel status: 1

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