Epidermolysis bullosa

Gene: TGM5

Green List (high evidence)

TGM5 (transglutaminase 5)
EnsemblGeneIds (GRCh38): ENSG00000104055
EnsemblGeneIds (GRCh37): ENSG00000104055
OMIM: 603805, Gene2Phenotype
TGM5 is in 3 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)

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.

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

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

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: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TGM5 were set to 16380904;20164844;22036214;22622422

24 Apr 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TGM5 were set to Peeling skin syndrome 2, 609796; Acral peeling skin sydrome

24 Apr 2017, Gel status: 2

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for TGM5 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Apr 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

TGM5 was added to Epidermolysis bullosapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TGM5 was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TGM5 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing