TGM5

transglutaminase 5
OMIM: 603805, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TGM5 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.24

1 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 1.4216

1 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 0.280

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

Red TGM5 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.147

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