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Severe Paediatric Disorders v0.12 | NALCN | Louise Daugherty reviewed gene: NALCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | NALCN | Louise Daugherty Publications for gene NALCN were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | NALCN | Louise Daugherty Mode of inheritance for gene NALCN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | NALCN | Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | NALCN | Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | NALCN | Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | NALCN | Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419; Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 for gene: NALCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | NALCN | Louise Daugherty Source Next Generation Children Project was added to NALCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | NALCN |
Louise Daugherty Source Expert Review Green was added to NALCN. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | NALCN |
Louise Daugherty gene: NALCN was added gene: NALCN was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NALCN was set to |