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Severe Paediatric Disorders v0.17 | ERCC5 | Louise Daugherty Mode of inheritance for gene ERCC5 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | ERCC5 | Louise Daugherty reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | ERCC5 | Louise Daugherty Publications for gene ERCC5 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | ERCC5 | Louise Daugherty Added phenotypes Cerebrooculofacioskeletal syndrome 3, 616570; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780; Xeroderma pigmentosum, group G, 278780 for gene: ERCC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ERCC5 | Louise Daugherty Added phenotypes Cerebrooculofacioskeletal syndrome 3, 616570; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780; Xeroderma pigmentosum, group G, 278780 for gene: ERCC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ERCC5 | Louise Daugherty Added phenotypes Cerebrooculofacioskeletal syndrome 3, 616570; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780; Xeroderma pigmentosum, group G, 278780 for gene: ERCC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | ERCC5 | Louise Daugherty Added phenotypes Xeroderma pigmentosum, group G, 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780; Cerebrooculofacioskeletal syndrome 3, 616570 for gene: ERCC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | ERCC5 | Louise Daugherty Source Next Generation Children Project was added to ERCC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | ERCC5 |
Louise Daugherty Source Expert Review Green was added to ERCC5. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | ERCC5 |
Louise Daugherty gene: ERCC5 was added gene: ERCC5 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ERCC5 was set to |