Epidermolysis bullosa and congenital skin fragility

Gene: TGM5

Green List (high evidence)

TGM5 (transglutaminase 5)
EnsemblGeneIds (GRCh38): ENSG00000104055
EnsemblGeneIds (GRCh37): ENSG00000104055
OMIM: 603805, Gene2Phenotype
TGM5 is in 4 panels

5 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.

Rebecca Foulger (Genomics England curator)

Comment on list classification: TGM5 mutations are excluded from the eligibility statement to prevent the re-discovery of recognised pathogenic variants. However after discussion we have changed the rating from Red to Green on this panel because expert review was green, TGM5 is listed for prior genetic testing for this disorder, TGM5 is on the UKGTN panel for 'Peeling Skin Syndrome, Acral Type', multiple variants are recorded in OMIM for unrelated cases, and new TGM5 variants may be reported by this approach.
Created: 5 Dec 2016, 10:53 a.m.

David Kelsell (Queen Mary University of London)

Green List (high evidence)

phenotypes and supporting published data as described in submitted details
Created: 3 May 2016, 1:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Phenotype and mode of inheritance sourced from OMIM.
Created: 8 Jan 2016, 12:06 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 2, OMIM:609796
  • Acral peeling skin sydrome,MONDO:0012345
OMIM
603805
Clinvar variants
Variants in TGM5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome,MONDO:0012345

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, 609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TGM5 was added gene: TGM5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGM5 were set to 20164844; 22622422; 16380904; 22036214 Phenotypes for gene: TGM5 were set to Peeling skin syndrome 2, 609796; Acral peeling skin sydrome