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  2. Epidermolysis bullosa and congenital skin fragility
  3. FERMT1
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Epidermolysis bullosa and congenital skin fragility

Gene: FERMT1

Green List (high evidence)
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: Imported from Epidermolysis bullosa 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: Imported from Epidermolysis bullosa panel version 0.81

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FERMT1 were changed from Kindler syndrome (a separate category of Epidermolysis bullosa); Kindler syndrome,173650 to Kindler syndrome, OMIM:173650

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: FERMT1 was added gene: FERMT1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FERMT1 were set to 12789646; 27489438; 27862150; 12668616 Phenotypes for gene: FERMT1 were set to Kindler syndrome (a separate category of Epidermolysis bullosa); Kindler syndrome,173650