Epidermolysis bullosa

Gene: FERMT1

Green List (high evidence)

FERMT1 (fermitin family member 1)
EnsemblGeneIds (GRCh38): ENSG00000101311
EnsemblGeneIds (GRCh37): ENSG00000101311
OMIM: 607900, Gene2Phenotype
FERMT1 is in 3 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)

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
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
24 Apr 2017, 3:31 p.m.
Comment on phenotypes: reformatted and added suggestions from expert reviewer and added MIMid
24 Apr 2017, 3:28 p.m.

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

History Filter Activity

25 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

24 Apr 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

FERMT1 was added to Epidermolysis bullosapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

24 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Apr 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FERMT1 were set to 12668616; 12789646;27862150;27489438

24 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FERMT1 were set to Kindler syndrome,173650; Kindler syndrome (a separate category of Epidermolysis bullosa)

19 Nov 2015, Gel status: 0

Added New Source

John McGrath (King's College London)

FERMT1 was added to Epidermolysis bullosapanel. Sources: Expert Review

19 Nov 2015, Gel status: 0

Created

John McGrath (King's College London)

FERMT1 was created by JAM22HP