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| Paediatric pseudo-obstruction syndrome v0.216 | L1CAM | Achchuthan Shanmugasundram commented on gene: L1CAM: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.58 | L1CAM | Achchuthan Shanmugasundram commented on gene: L1CAM: Added a 'monogenic-polygenic' tag based on patient in PMID:22344793 who carried both L1CAM and RET variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.58 | L1CAM | Achchuthan Shanmugasundram Tag monogenic-polygenic tag was added to gene: L1CAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.58 | L1CAM | Achchuthan Shanmugasundram Classified gene: L1CAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.58 | L1CAM | Achchuthan Shanmugasundram Gene: l1cam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.57 | L1CAM | Achchuthan Shanmugasundram Mode of inheritance for gene: L1CAM was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.56 | L1CAM | Achchuthan Shanmugasundram Phenotypes for gene: L1CAM were changed from to Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, OMIM:307000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.55 | L1CAM | Achchuthan Shanmugasundram Publications for gene: L1CAM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.54 | L1CAM | Achchuthan Shanmugasundram reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28543993, 20860806, 22344793, 11857550, 15148591, 19641926, 9279760; Phenotypes: Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, OMIM:307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | L1CAM | Eleanor Williams reviewed gene: L1CAM: Rating: ; Mode of pathogenicity: ; Publications: 31848803; Phenotypes: Defect in the differentiation of the interstitial cells of Cajal leading to progressive distension and intermittent episodes of obstruction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | L1CAM |
Eleanor Williams gene: L1CAM was added gene: L1CAM was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: L1CAM was set to |
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