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Intellectual disability

Gene: CEP63

Amber List (moderate evidence)

CEP63 (centrosomal protein 63)
EnsemblGeneIds (GRCh38): ENSG00000182923
EnsemblGeneIds (GRCh37): ENSG00000182923
OMIM: 614724, Gene2Phenotype
CEP63 is in 6 panels

4 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Associated with ?Seckel syndrome 6 614728 in OMIM and as a probable G2P (biallelic), with at least 1 variant reported (PMID 21983783). Autosomal dominant variant associated with developmental dyslexia in PMID 26400686
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SECKEL SYNDROME 6

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: One family reported to date
Created: 5 Feb 2016, 10:09 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Seckel syndrome 6 614728
  • Developmental dyslexia
OMIM
614724
Clinvar variants
Variants in CEP63
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to CEP63. Panel: Intellectual disability Model of inheritance for gene CEP63 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene CEP63 was set to ['21983783', ' 26400686']

5 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CEP63 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CEP63 was added to Intellectual disabilitypanel. Sources: Expert Review Amber