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| White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC2 | Sarah Leigh Tag Q2_21_rating was removed from gene: ERCC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC2 | Sarah Leigh reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | ERCC2 |
Sarah Leigh Source Expert Review Amber was added to ERCC2. Source NHS GMS was added to ERCC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.72 | ERCC2 | Eleanor Williams Classified gene: ERCC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.72 | ERCC2 | Eleanor Williams Added comment: Comment on list classification: Leaving rating as green, but with a recommendation of an amber rating following GMS review. Only one case reported with a white matter abnormality. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.72 | ERCC2 | Eleanor Williams Gene: ercc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.71 | ERCC2 | Eleanor Williams Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675 to Trichothiodystrophy 1, photosensitive, OMIM:601675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.70 | ERCC2 | Eleanor Williams Publications for gene: ERCC2 were set to MIM#601675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.69 | ERCC2 | Eleanor Williams Tag Q2_21_rating tag was added to gene: ERCC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.69 | ERCC2 | Eleanor Williams commented on gene: ERCC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.14 | ERCC2 | Zornitza Stark reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29451896; Phenotypes: Trichothiodystrophy 1, photosensitive 601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC2 | Ellen McDonagh Publications for gene ERCC2 were changed from to MIM#601675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC2 |
Ellen McDonagh gene: ERCC2 was added gene: ERCC2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675 |
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