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||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Lamellar Ichthyosis, Type 1||TGM1||2-15  (*12)||AR||Caucasian||1 in 253||67%||0.00130718954248366|
|Lamellar Ichthyosis, Type 1||TGM1||2-15  (*12)||AR||Worldwide||1 in 301||63%||0.00123152709359606|
|Lamellar Ichthyosis, Type 1||TGM1||2-15  (*12)||AR||Norway||1 in 151||80%||0.00133155792276964|