TGM5

transglutaminase 5
OMIM: 603805, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green TGM5 in Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.4

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Peeling skin syndrome 2, 609796
  • acral peeling skin
Amber TGM5 in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 2, OMIM:609796
Tags
  • Q4_23_promote_green
  • Q4_23_NHS_review
Green TGM5 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.11

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 2.7
Latest signed off version: v2.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 2, OMIM:609796
  • Acral peeling skin sydrome,MONDO:0012345
Amber TGM5 in Palmoplantar keratodermas


Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 2, OMIM:609796
Tags
  • Q4_23_promote_green
  • Q4_23_NHS_review
Green TGM5 in Severe Paediatric Disorders


Version 1.184

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