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Severe Paediatric Disorders v0.17 | CLN8 | Louise Daugherty Mode of inheritance for gene CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CLN8 | Louise Daugherty reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CLN8 | Louise Daugherty Publications for gene CLN8 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CLN8 | Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CLN8 | Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CLN8 | Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CLN8 | Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CLN8 | Louise Daugherty Source Next Generation Children Project was added to CLN8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CLN8 |
Louise Daugherty Source Expert Review Green was added to CLN8. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CLN8 |
Louise Daugherty gene: CLN8 was added gene: CLN8 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CLN8 was set to |