Congenital ichthyosis
OMIM:242300Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | TGM1 |
|---|---|
| Reference transcript | NM_000359.2 |
| DNA Change | c.1074delC |
| A.A. Change | Ser358fsX26 |
| Exon/Intron | exon 7 |
| Mutation Type | deletion |
| Reference | Oji V, Hautier JM, Ahvazi B, Hausser I, Aufenvenne K, Walker T, Seller N, Steijlen PM, K?ster W, Hovnanian A, Hennies HC, Traupe H.Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet. 2006 Nov 1;15(21):3083-97. |
| Gene Symbol | TGM1 |
|---|---|
| Reference transcript | NM_000359.2 |
| DNA Change | c.791G>A |
| A.A. Change | Arg264Gln |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Oji V, Hautier JM, Ahvazi B, Hausser I, Aufenvenne K, Walker T, Seller N, Steijlen PM, K?ster W, Hovnanian A, Hennies HC, Traupe H.Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet. 2006 Nov 1;15(21):3083-97. |
| Gene Symbol | TGM1 |
|---|---|
| Reference transcript | NM_000359.2 |
| DNA Change | c.944G>A |
| A.A. Change | Arg315His |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Oji V, Hautier JM, Ahvazi B, Hausser I, Aufenvenne K, Walker T, Seller N, Steijlen PM, K?ster W, Hovnanian A, Hennies HC, Traupe H.Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet. 2006 Nov 1;15(21):3083-97. |