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| Severe Paediatric Disorders v0.17 | CHRND | Louise Daugherty Mode of inheritance for gene CHRND was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | CHRND | Louise Daugherty reviewed gene: CHRND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | CHRND | Louise Daugherty Publications for gene CHRND were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | CHRND | Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | CHRND | Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | CHRND | Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | CHRND | Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | CHRND | Louise Daugherty Source Next Generation Children Project was added to CHRND. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | CHRND |
Louise Daugherty Source Expert Review Green was added to CHRND. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | CHRND |
Louise Daugherty gene: CHRND was added gene: CHRND was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CHRND was set to |
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