Lamellar Ichthyosis, Type 1 (TGM1)

Lamellar ichthyosis, type 1 is an autosomal recessive disorder caused by pathogenic variants in the TGM1 gene. It has the highest prevalence in the Caucasian population, especially in individuals with Norwegian ancestry. Patients with this syndrome are usually born with a collodion membrane (a shiny, tight layer of skin over the body which is shed within the first two weeks of life) and will typically develop skin symptoms in infancy. These infantile skin symptoms usually include brown scales over the entire body, inversion of the eyelids and lips, thickening of skin on the palms and soles of the feet, and hair loss with some scarring. Life expectancy is typically unaffected. There have been no reported genotype-phenotype correlations.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Lamellar Ichthyosis, Type 1TGM12-15 [15] (*12)ARCaucasian1 in 25367%0.00130718954248366
Lamellar Ichthyosis, Type 1TGM12-15 [15] (*12)ARWorldwide1 in 30163%0.00123152709359606
Lamellar Ichthyosis, Type 1TGM12-15 [15] (*12)ARNorway1 in 15180%0.00133155792276964