| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.2050 | L1CAM | Zornitza Stark Marked gene: L1CAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2050 | L1CAM | Zornitza Stark Gene: l1cam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2050 | L1CAM | Zornitza Stark Phenotypes for gene: L1CAM were changed from MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME; PARTIAL AGENESIS OF THE CORPUS CALLOSUM; HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS; SPASTIC PARAPLEGIA X-LINKED TYPE 1 to Hydrocephalus due to aqueductal stenosis, MIM# 307000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2049 | L1CAM | Zornitza Stark Publications for gene: L1CAM were set to 30712878; 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2048 | L1CAM | Zornitza Stark changed review comment from: L1CAM conditions are typically associated with adducted thumb/lower limb spasticity. Single report identified of arthrogryposis.; to: Well established gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2048 | L1CAM | Zornitza Stark edited their review of gene: L1CAM: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | L1CAM |
Zornitza Stark gene: L1CAM was added gene: L1CAM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: L1CAM were set to 30712878; 28425981 Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME; PARTIAL AGENESIS OF THE CORPUS CALLOSUM; HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS; SPASTIC PARAPLEGIA X-LINKED TYPE 1 |
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