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Severe Paediatric Disorders v1.10 | PTPN23 | Eleanor Williams Added comment: Comment on phenotypes: Added disease association added in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.10 | PTPN23 | Eleanor Williams Phenotypes for gene: PTPN23 were changed from Developmental epileptic encephalopathy with hypomyelination and brain atrophy to Developmental epileptic encephalopathy with hypomyelination and brain atrophy; Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | PTPN23 | Louise Daugherty reviewed gene: PTPN23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PTPN23 | Louise Daugherty Publications for gene PTPN23 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PTPN23 | Louise Daugherty Mode of inheritance for gene PTPN23 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PTPN23 | Louise Daugherty Added phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy for gene: PTPN23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PTPN23 | Louise Daugherty Added phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy for gene: PTPN23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PTPN23 | Louise Daugherty Added phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy for gene: PTPN23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PTPN23 | Louise Daugherty Added phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy for gene: PTPN23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PTPN23 | Louise Daugherty Source Next Generation Children Project was added to PTPN23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PTPN23 |
Louise Daugherty Source Expert Review Green was added to PTPN23. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PTPN23 |
Louise Daugherty gene: PTPN23 was added gene: PTPN23 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PTPN23 was set to |