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| White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC6 |
Ellen McDonagh Added phenotypes Intercranial Calcifications for gene: ERCC6 Publications for gene ERCC6 were changed from 26204423; 26749132 to PMID: 7063265 |
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| White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC6 |
Ellen McDonagh Mode of pathogenicity for gene ERCC6 was changed from to Other - please provide details in the comments Added phenotypes De Sanctis-Cacchione syndrome; PMID: 26204423; Cockayne syndrome phenotype and UV-sensitive syndrome; Cockayne syndrome B; UV-sensitive syndrome 1; Cockayne syndrome, type B for gene: ERCC6 Publications for gene ERCC6 were changed from 25655951 to 26204423; 26749132 |
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| White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC6 |
Ellen McDonagh gene: ERCC6 was added gene: ERCC6 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6 were set to 25655951 Phenotypes for gene: ERCC6 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cockayne syndrome; UV-sensitive syndrome |
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