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| Severe Paediatric Disorders v0.12 | TBCE | Louise Daugherty reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | TBCE | Louise Daugherty Publications for gene TBCE were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | TBCE | Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TBCE | Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TBCE | Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TBCE | Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 for gene: TBCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TBCE |
Louise Daugherty Mode of inheritance for gene TBCE was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE |
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| Severe Paediatric Disorders v0.7 | TBCE | Louise Daugherty Source Next Generation Children Project was added to TBCE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | TBCE |
Louise Daugherty Source Expert Review Green was added to TBCE. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | TBCE |
Louise Daugherty gene: TBCE was added gene: TBCE was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TBCE was set to |
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