Peeling skin syndrome
Gene: TGM5

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

Created: 5 Dec 2016, 10:53 a.m.

Panel version: 0.30

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

Created: 3 May 2016, 1:47 p.m.

Panel version: 0.13

Ellen McDonagh (Genomics England Curator)

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

Created: 8 Jan 2016, 12:06 p.m.

Panel version: 0.6

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