| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Arthrogryposis v3.118 | L1CAM | Arina Puzriakova Mode of inheritance for gene: L1CAM was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.120 | L1CAM | Rebecca Foulger Source NHS GMS was added to L1CAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.119 | L1CAM | Rebecca Foulger Classified gene: L1CAM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.119 | L1CAM | Rebecca Foulger Added comment: Comment on list classification: Set rating as Red based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.119 | L1CAM | Rebecca Foulger Gene: l1cam has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.118 | L1CAM | Rebecca Foulger commented on gene: L1CAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.108 | L1CAM | Julie Vogt changed review comment from: Sources: Other; to: Sources: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.108 | L1CAM |
Julie Vogt gene: L1CAM was added gene: L1CAM was added to Arthrogryposis. Sources: Other Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: L1CAM were set to PMID: 31504653 Phenotypes for gene: L1CAM were set to arthrogryposis; congenital hypopituitarism Review for gene: L1CAM was set to RED Added comment: Sources: Other |
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