TGM5

transglutaminase 5
OMIM: 603805, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TGM5 in Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Peeling skin syndrome 2, 609796
  • acral peeling skin

Green TGM5 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Peeling skin syndrome 2, 609796
  • Acral peeling skin sydrome

Green TGM5 in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 2, OMIM:609796
  • Acral peeling skin sydrome,MONDO:0012345

Green TGM5 in Severe Paediatric Disorders


Version 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Peeling skin syndrome 2, 609796