1. Panels
  2. Monogenic short stature
  3. CEP57
STRs in panel
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Monogenic short stature

Gene: CEP57

Green List (high evidence)
CEP57 (centrosomal protein 57)
EnsemblGeneIds (GRCh38): ENSG00000166037
EnsemblGeneIds (GRCh37): ENSG00000166037
OMIM: 607951, Gene2Phenotype
CEP57 is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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).
Created: 20 Oct 2020, 3:07 p.m. | Last Modified: 20 Oct 2020, 3:07 p.m.
Panel Version: 1.14
Created: 20 Oct 2020, 3:07 p.m.
Last Modified: 20 Oct 2020, 3:07 p.m.
Copied from panel: Growth failure in early childhood v3.76

Ivone Leong (Genomics England Curator)

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
Created: 5 May 2020, 3:22 p.m.
Last Modified: 5 May 2020, 3:22 p.m.
Copied from panel: Growth failure in early childhood v3.76

Ellen Thomas (Genomics England Curator)

Green List (high evidence)

Phenotype includes IUGR and growth failure; green on other panels
Sources: Other
Created: 12 Dec 2019, 9:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mosaic variegated aneuploidy syndrome 2

Publications

Created: 12 Dec 2019, 9:17 p.m.

Copied from panel: Growth failure in early childhood v3.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Mosaic variegated aneuploidy syndrome 2, OMIM:614114
OMIM
607951
Clinvar variants
Variants in CEP57
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: CEP57 was added gene: CEP57 was added to Monogenic short stature. Sources: Expert Review Green,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, OMIM:614114