Peeling skin syndrome
Gene: TGM5Comment 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.
phenotypes and supporting published data as described in submitted detailsCreated: 3 May 2016, 1:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotype and mode of inheritance sourced from OMIM.Created: 8 Jan 2016, 12:06 p.m.
12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
Phenotypes for gene TGM5 were set to Peeling skin syndrome 2, 609796; acral peeling skin;
This gene has been classified as Green List (High Evidence).
Phenotypes for gene TGM5 were set to Peeling skin syndrome 2, 603805; acral peeling skin;
Phenotypes for gene TGM5 were set to acral peeling skin; Peeling skin syndrome 2
TGM5 was added to Peeling skin syndromepanel. Sources: Other
Phenotypes for gene TGM5 were set to acral peeling skin; Peeling skin syndrome 2
Model of inheritance for gene TGM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene TGM5 were set to acral peeling skin
TGM5 was created by ellenmcdonagh
TGM5 was added to Peeling skin syndromepanel. Sources: Eligibility statement prior genetic testing