| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Leukodystrophy - paediatric v0.16 | ERCC2 | Bryony Thompson Classified gene: ERCC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.16 | ERCC2 | Bryony Thompson Gene: ercc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.15 | ERCC2 |
Bryony Thompson gene: ERCC2 was added gene: ERCC2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 29451896 Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive 601675 Review for gene: ERCC2 was set to AMBER Added comment: White matter changes have been reported as a feature of trichothiodystrophy, but has only been reported in association with ERCC2 in 1 case. Sources: Expert list |
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