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| Congenital diaphragmatic hernia v1.14 | PLS3 | Zornitza Stark Phenotypes for gene: PLS3 were changed from congenital diaphragmatic hernia MONDO:0005711, PLS3-related to Diaphragmatic hernia 5, X-linked, MIM# 306950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.13 | PLS3 | Zornitza Stark reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 5, X-linked, MIM# 306950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.13 | PLS3 | Ain Roesley Marked gene: PLS3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.13 | PLS3 | Ain Roesley Gene: pls3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.13 | PLS3 | Ain Roesley Classified gene: PLS3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.13 | PLS3 | Ain Roesley Gene: pls3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.12 | PLS3 |
Lauren Rogers changed review comment from: 8 unrelated families with affected males with X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism. Sources: Literature; to: 8 unrelated families with affected males with an X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism. Sources: Literature |
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| Congenital diaphragmatic hernia v1.12 | PLS3 |
Lauren Rogers gene: PLS3 was added gene: PLS3 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLS3 were set to 37751738 Phenotypes for gene: PLS3 were set to congenital diaphragmatic hernia MONDO:0005711, PLS3-related Review for gene: PLS3 was set to GREEN Added comment: 8 unrelated families with affected males with X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism. Sources: Literature |
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