| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Growth failure in early childhood v3.18 | CEP57 | Arina Puzriakova Phenotypes for gene: CEP57 were changed from Mosaic variegated aneuploidy syndrome 2, 614114 to Mosaic variegated aneuploidy syndrome 2, OMIM:614114 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.100 | CEP57 | Ivone Leong Tag for-review was removed from gene: CEP57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.100 | CEP57 | Ivone Leong commented on gene: CEP57: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.99 | CEP57 |
Ivone Leong Source Expert Review Green was added to CEP57. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Growth failure in early childhood v1.14 | CEP57 | Arina Puzriakova Classified gene: CEP57 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.14 | CEP57 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.14 | CEP57 | Arina Puzriakova Gene: cep57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.13 | CEP57 | Arina Puzriakova Tag for-review tag was added to gene: CEP57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.8 | CEP57 | Ivone Leong Classified gene: CEP57 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.8 | CEP57 | Ivone Leong Added comment: Comment on list classification: Gene added by Ellen Thomas (Genomics England Curator). Given Green status as suggested as there are >3 unrelated cases for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.8 | CEP57 | Ivone Leong Gene: cep57 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.7 | CEP57 | Ivone Leong Phenotypes for gene: CEP57 were changed from Mosaic variegated aneuploidy syndrome 2 to Mosaic variegated aneuploidy syndrome 2, 614114 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.3 | CEP57 |
Ellen Thomas gene: CEP57 was added gene: CEP57 was added to Growth failure in early childhood. Sources: Other Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP57 were set to 24259107; 21552266 Phenotypes for gene: CEP57 were set to Mosaic variegated aneuploidy syndrome 2 Review for gene: CEP57 was set to GREEN Added comment: Phenotype includes IUGR and growth failure; green on other panels Sources: Other |
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