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| Severe Paediatric Disorders v0.17 | L1CAM | Louise Daugherty Mode of inheritance for gene L1CAM was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | L1CAM | Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | L1CAM | Louise Daugherty Publications for gene L1CAM were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | L1CAM | Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | L1CAM | Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | L1CAM | Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | L1CAM | Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; MASA syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; Corpus callosum, partial agenesis of, 304100; CRASH syndrome, 303350 for gene: L1CAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | L1CAM | Louise Daugherty Source Next Generation Children Project was added to L1CAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | L1CAM |
Louise Daugherty Source Expert Review Green was added to L1CAM. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | L1CAM |
Louise Daugherty gene: L1CAM was added gene: L1CAM was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: L1CAM was set to |
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