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  3. CEP57
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Growth failure in early childhood

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.
Panel version: 1.14

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.
Panel version: 1.100

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.

Panel version: 1.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CEP57 were changed from Mosaic variegated aneuploidy syndrome 2, 614114 to Mosaic variegated aneuploidy syndrome 2, OMIM:614114

3 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: CEP57.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to CEP57. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cep57 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: CEP57.

5 May 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cep57 has been classified as Green List (High Evidence).

5 May 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CEP57 were changed from Mosaic variegated aneuploidy syndrome 2 to Mosaic variegated aneuploidy syndrome 2, 614114

12 Dec 2019, Gel status: 0

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

Ellen Thomas (Genomics England Curator)

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