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| White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC8 |
Ellen McDonagh Added phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cockayne Syndrome; UV-sensitive syndrome for gene: ERCC8 Publications for gene ERCC8 were changed from 26204423 to 25655951 |
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| White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC8 |
Ellen McDonagh gene: ERCC8 was added gene: ERCC8 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC8 were set to 26204423 Phenotypes for gene: ERCC8 were set to Cockayne syndrome phenotype and UV-sensitive syndrome; PMID: 26204423; Cockayne syndrome, type A Mode of pathogenicity for gene: ERCC8 was set to Other - please provide details in the comments |
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