Peeling skin syndrome

Gene: TGM5

Green List (high evidence)

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

3 reviews

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
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Peeling skin syndrome 2, 609796
  • acral peeling skin
OMIM
603805
Clinvar variants
Variants in TGM5
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

12 Dec 2016, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene TGM5 were set to Peeling skin syndrome 2, 609796; acral peeling skin;

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

5 Dec 2016, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene TGM5 were set to Peeling skin syndrome 2, 603805; acral peeling skin;

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene TGM5 were set to acral peeling skin; Peeling skin syndrome 2

8 Jan 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

TGM5 was added to Peeling skin syndromepanel. Sources: Other

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene TGM5 were set to acral peeling skin; Peeling skin syndrome 2

8 Jan 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TGM5 was set to BIALLELIC, autosomal or pseudoautosomal

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene TGM5 were set to acral peeling skin

7 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TGM5 was created by ellenmcdonagh

7 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TGM5 was added to Peeling skin syndromepanel. Sources: Eligibility statement prior genetic testing