TGM1

transglutaminase 1
OMIM: 190195, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TGM1 in Ichthyosis


Level 2: Dermatological disorders
Version 1.13

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

Green TGM1 in Mendeliome


Version 1.3512

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

Green TGM1 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.136

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

Green TGM1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.110

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

Green TGM1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

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

Green TGM1 in Prepair 1000+


Level 2: Screening
Version 2.14

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

Red TGM1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)

Green TGM1 in Prepair 500+


Level 2: Screening
Version 2.0

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