Epidermolysis bullosa
Gene: TGM5

TGM5 (transglutaminase 5)
EnsemblGeneIds (GRCh38): ENSG00000104055
EnsemblGeneIds (GRCh37): ENSG00000104055
OMIM: 603805, Gene2Phenotype
TGM5 is in 5 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
acral peeling skin sydrome (classified as a form 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 amber to green based on expert reviewer suggestion and evidence in the literature
Created: 24 Apr 2017, 3:27 p.m.

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

Created: 24 Apr 2017, 3:26 p.m.

Comment on phenotypes: added MIMid and synonym
Created: 24 Apr 2017, 3:24 p.m.

Comment on mode of inheritance: updated MOI due to reviewer comment and evidence in publications
Created: 24 Apr 2017, 3:21 p.m.

Created: 24 Apr 2017, 3:21 p.m.

Panel version: 0.77

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Eligibility statement prior genetic testing

Phenotypes

Peeling skin syndrome 2, 609796
Acral peeling skin sydrome

OMIM

603805

Clinvar variants

Variants in TGM5

Penetrance

Complete

Publications

Panels with this gene