Epidermolysis bullosa
Gene: FERMT1

FERMT1 (fermitin family member 1)
EnsemblGeneIds (GRCh38): ENSG00000101311
EnsemblGeneIds (GRCh37): ENSG00000101311
OMIM: 607900, Gene2Phenotype
FERMT1 is in 6 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kindler syndrome (a separate category of Epidermolysis bullosa)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed status from grey to green based on expert reviewer suggestion and evidence in the literature
Created: 24 Apr 2017, 3:31 p.m.

Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases : Kindler syndrome

Created: 24 Apr 2017, 3:31 p.m.

Comment on phenotypes: reformatted and added suggestions from expert reviewer and added MIMid
Created: 24 Apr 2017, 3:28 p.m.

Created: 24 Apr 2017, 3:28 p.m.

Panel version: 0.81

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Expert Review Green

Phenotypes

Kindler syndrome,173650
Kindler syndrome (a separate category of Epidermolysis bullosa)

OMIM

607900

Clinvar variants

Variants in FERMT1

Penetrance

Complete

Publications

Panels with this gene