TGM1

transglutaminase 1
OMIM: 190195, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red TGM1 in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, 242300
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
Green TGM1 in Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, 242300
Green TGM1 in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, OMIM:242300
Red TGM1 in Ectodermal dysplasia


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 1, 242300
Green TGM1 in Palmoplantar keratodermas


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis
Green TGM1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 242300