TGM5

transglutaminase 5
OMIM: 603805, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TGM5 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin syndrome 2, MIM# 609796

Green TGM5 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin syndrome 2, MIM# 609796

Green TGM5 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome, acral type

Red TGM5 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Peeling skin syndrome 2, MIM# 609796