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| Severe Paediatric Disorders v1.36 | FLNC | Arina Puzriakova Phenotypes for gene: FLNC were changed from Cardiomyopathy, familial restrictive 5, 617047; Cardiomyopathy, familial hypertrophic, 26; Myopathy, distal, 4, 614065; Myopathy, myofibrillar, 5, 609524 to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883; Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.17 | FLNC | Louise Daugherty Mode of inheritance for gene FLNC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | FLNC | Louise Daugherty reviewed gene: FLNC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | FLNC | Louise Daugherty Publications for gene FLNC were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | FLNC | Louise Daugherty Added phenotypes Cardiomyopathy, familial hypertrophic, 26; Myopathy, myofibrillar, 5, 609524; Myopathy, distal, 4, 614065; Cardiomyopathy, familial restrictive 5, 617047 for gene: FLNC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FLNC | Louise Daugherty Added phenotypes Cardiomyopathy, familial hypertrophic, 26; Myopathy, myofibrillar, 5, 609524; Myopathy, distal, 4, 614065; Cardiomyopathy, familial restrictive 5, 617047 for gene: FLNC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FLNC | Louise Daugherty Added phenotypes Cardiomyopathy, familial hypertrophic, 26; Myopathy, myofibrillar, 5, 609524; Myopathy, distal, 4, 614065; Cardiomyopathy, familial restrictive 5, 617047 for gene: FLNC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | FLNC | Louise Daugherty Added phenotypes Myopathy, distal, 4, 614065; Cardiomyopathy, familial hypertrophic, 26; Myopathy, myofibrillar, 5, 609524; Cardiomyopathy, familial restrictive 5, 617047 for gene: FLNC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | FLNC | Louise Daugherty Source Next Generation Children Project was added to FLNC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | FLNC |
Louise Daugherty Source Expert Review Green was added to FLNC. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | FLNC |
Louise Daugherty gene: FLNC was added gene: FLNC was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FLNC was set to |
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