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Severe Paediatric Disorders v0.12 | RAPSN | Louise Daugherty reviewed gene: RAPSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | RAPSN | Louise Daugherty Publications for gene RAPSN were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | RAPSN | Louise Daugherty Mode of inheritance for gene RAPSN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | RAPSN | Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | RAPSN | Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | RAPSN | Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | RAPSN | Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; Fetal akinesia deformation sequence 2, 618388 for gene: RAPSN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | RAPSN | Louise Daugherty Source Next Generation Children Project was added to RAPSN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | RAPSN |
Louise Daugherty Source Expert Review Green was added to RAPSN. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | RAPSN |
Louise Daugherty gene: RAPSN was added gene: RAPSN was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: RAPSN was set to |