Growth failure in early childhood
Gene: CEP57Comment 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).Created: 20 Oct 2020, 3:07 p.m. | Last Modified: 20 Oct 2020, 3:07 p.m.
Panel Version: 1.14
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:49 p.m. | Last Modified: 3 Mar 2022, 1:49 p.m.
Panel Version: 1.100
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.Created: 5 May 2020, 3:22 p.m. | Last Modified: 5 May 2020, 3:22 p.m.
Panel Version: 1.8
Phenotypes for gene: CEP57 were changed from Mosaic variegated aneuploidy syndrome 2, 614114 to Mosaic variegated aneuploidy syndrome 2, OMIM:614114
Tag for-review was removed from gene: CEP57.
Source Expert Review Green was added to CEP57. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cep57 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: CEP57.
Gene: cep57 has been classified as Green List (High Evidence).
Phenotypes for gene: CEP57 were changed from Mosaic variegated aneuploidy syndrome 2 to Mosaic variegated aneuploidy syndrome 2, 614114
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