| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.3475 | LTBP1 | Zornitza Stark Marked gene: LTBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3475 | LTBP1 | Zornitza Stark Gene: ltbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3475 | LTBP1 | Zornitza Stark Classified gene: LTBP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3475 | LTBP1 | Zornitza Stark Gene: ltbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3400 | LTBP1 |
Krithika Murali gene: LTBP1 was added gene: LTBP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP1 were set to 33991472 Phenotypes for gene: LTBP1 were set to Cutis laxa, autosomal recessive, type IIE - MIM#619451 Review for gene: LTBP1 was set to GREEN Added comment: Homozygous premature truncating LTBP1 variants in eight affected individuals from four unrelated consanguineous families reported associated with autosomal recessive cutis laxa type IIE. Phenotypic features relevant in the prenatal setting include: - Congenital diaphragmatic hernia (1 individual) - Cleft palate (2 individuals) - Congenital heart defects - Renal anomalies (1 individual) - Microretrognathia (1 individual) - Hydrocephalus (1 individual) - Skeletal anomalies (craniosynostosis, short stature, brachydactyly, and syndactyly). Supportive patient-derived fibroblast and zebrafish studies. Sources: Literature |
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