Epidermolysis bullosa and congenital skin fragility
Gene: TGM5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
acral peeling skin sydrome (classified as a form of Epidermolysis bullosa)
Comment on list classification: Changed status from amber to green based on expert reviewer suggestion and evidence in the literatureCreated: 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 synonymCreated: 24 Apr 2017, 3:24 p.m.
Comment on mode of inheritance: updated MOI due to reviewer comment and evidence in publicationsCreated: 24 Apr 2017, 3:21 p.m.
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.
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.
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
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
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