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Severe Paediatric Disorders v0.17 | ERCC4 | Louise Daugherty Mode of inheritance for gene ERCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | ERCC4 | Louise Daugherty reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | ERCC4 | Louise Daugherty Publications for gene ERCC4 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | ERCC4 | Louise Daugherty Added phenotypes Xeroderma pigmentosum, group F, 278760; Fanconi anemia, complementation group Q, 615272; XFE progeroid syndrome, 610965; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 for gene: ERCC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ERCC4 | Louise Daugherty Added phenotypes Xeroderma pigmentosum, group F, 278760; Fanconi anemia, complementation group Q, 615272; XFE progeroid syndrome, 610965; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 for gene: ERCC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ERCC4 | Louise Daugherty Added phenotypes Xeroderma pigmentosum, group F, 278760; Fanconi anemia, complementation group Q, 615272; XFE progeroid syndrome, 610965; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 for gene: ERCC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | ERCC4 | Louise Daugherty Added phenotypes Xeroderma pigmentosum, group F, 278760; Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760; XFE progeroid syndrome, 610965 for gene: ERCC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | ERCC4 | Louise Daugherty Source Next Generation Children Project was added to ERCC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | ERCC4 |
Louise Daugherty Source Expert Review Green was added to ERCC4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | ERCC4 |
Louise Daugherty gene: ERCC4 was added gene: ERCC4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ERCC4 was set to |