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| Fetal anomalies v0.318 | L1CAM | Rebecca Foulger edited their review of gene: L1CAM: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.273 | L1CAM | Rebecca Foulger edited their review of gene: L1CAM: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in L1CAM in a case where the main ultrasound finding was Hydrocephalus consistent with aqueductal stenosis (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrocephalus consistent with aqueductal stenosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.271 | L1CAM | Rebecca Foulger Publications for gene: L1CAM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.186 | L1CAM | Rebecca Foulger edited their review of gene: L1CAM: Added comment: Additional evidence from PMID:30712878: Hemizgous variant identified in L1CAM in male fetus from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | L1CAM | Rebecca Foulger edited their review of gene: L1CAM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | L1CAM | Rebecca Foulger reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | L1CAM | Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 1 for gene: L1CAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | L1CAM | Rebecca Foulger Added phenotypes PARTIAL AGENESIS OF THE CORPUS CALLOSUM for gene: L1CAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | L1CAM | Rebecca Foulger Added phenotypes HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS for gene: L1CAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | L1CAM |
Rebecca Foulger gene: L1CAM was added gene: L1CAM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME |
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