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Severe Paediatric Disorders v0.17 | ERCC8 | Louise Daugherty Mode of inheritance for gene ERCC8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | ERCC8 | Louise Daugherty reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | ERCC8 | Louise Daugherty Publications for gene ERCC8 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | ERCC8 | Louise Daugherty Added phenotypes Cockayne syndrome, type A, 216400; UV-sensitive syndrome 2, 614621 for gene: ERCC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ERCC8 | Louise Daugherty Added phenotypes Cockayne syndrome, type A, 216400; UV-sensitive syndrome 2, 614621 for gene: ERCC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ERCC8 | Louise Daugherty Added phenotypes Cockayne syndrome, type A, 216400; UV-sensitive syndrome 2, 614621 for gene: ERCC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | ERCC8 | Louise Daugherty Added phenotypes Cockayne syndrome, type A, 216400; UV-sensitive syndrome 2, 614621 for gene: ERCC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | ERCC8 | Louise Daugherty Source Next Generation Children Project was added to ERCC8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | ERCC8 |
Louise Daugherty Source Expert Review Green was added to ERCC8. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | ERCC8 |
Louise Daugherty gene: ERCC8 was added gene: ERCC8 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ERCC8 was set to |