TGM1

transglutaminase 1
OMIM: 190195, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TGM1 in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)

Green TGM1 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)

Green TGM1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, 242300 (3)

Green TGM1 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Ichthyosis, congenital, autosomal recessive

Green TGM1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, MIM#242300

Green TGM1 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, MIM#242300