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Severe Paediatric Disorders v0.17 | ERCC2 | Louise Daugherty Mode of inheritance for gene ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | ERCC2 | Louise Daugherty reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | ERCC2 | Louise Daugherty Publications for gene ERCC2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | ERCC2 | Louise Daugherty Added phenotypes ?Cerebrooculofacioskeletal syndrome 2, 610756; Trichothiodystrophy 1, photosensitive, 601675; Xeroderma pigmentosum, group D, 278730 for gene: ERCC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ERCC2 | Louise Daugherty Added phenotypes ?Cerebrooculofacioskeletal syndrome 2, 610756; Trichothiodystrophy 1, photosensitive, 601675; Xeroderma pigmentosum, group D, 278730 for gene: ERCC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ERCC2 | Louise Daugherty Added phenotypes ?Cerebrooculofacioskeletal syndrome 2, 610756; Trichothiodystrophy 1, photosensitive, 601675; Xeroderma pigmentosum, group D, 278730 for gene: ERCC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | ERCC2 | Louise Daugherty Added phenotypes Xeroderma pigmentosum, group D, 278730; ?Cerebrooculofacioskeletal syndrome 2, 610756; Trichothiodystrophy 1, photosensitive, 601675 for gene: ERCC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | ERCC2 | Louise Daugherty Source Next Generation Children Project was added to ERCC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | ERCC2 |
Louise Daugherty Source Expert Review Green was added to ERCC2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | ERCC2 |
Louise Daugherty gene: ERCC2 was added gene: ERCC2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ERCC2 was set to |