| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4583 | GLTP | Chirag Patel Marked gene: GLTP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4583 | GLTP | Chirag Patel Gene: gltp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4583 | GLTP | Chirag Patel Classified gene: GLTP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4583 | GLTP | Chirag Patel Gene: gltp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4582 | GLTP |
Chirag Patel gene: GLTP was added gene: GLTP was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GLTP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLTP were set to 41642656 Phenotypes for gene: GLTP were set to Ichthyosis, MONDO:0019269; Epidermal differentiation disorder Review for gene: GLTP was set to GREEN Added comment: PMID 41642656 reports 6 individuals from 5 unrelated families with rare biallelic loss‑of‑function GLTP variants (c.58_62del, c.98delT, c.162+2T>C). Individuals presented with non-syndromic epidermal differentiation disorder (generalized scaling, hyperkeratosis, and pruritus from birth, without extra‑dermal anomalies). GLTP encodes a glycolipid transfer protein that mediates inter‑membrane transport of glucosylceramide. The variants segregated with disease. Functional studies (CRISPR mouse knockout, keratinocyte knockdown, and rescue by eliglustat) demonstrate loss of GLTP expression and disrupted GlcCer trafficking, supporting a loss‑of‑function disease mechanism. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||