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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 5 panels

5 reviews

Ida Ertmanska (Genomics England Curator)

I don't know

Comment on list classification: There are 2 unrelated families reported with biallelic nonsense CEP63 variants and Seckel syndrome, including mild to moderate intellectual disability. There is a mouse model reported where CEP63 deficiency results in microcephaly, but without mention of impaired learning / intellectual functioning. Hence, this gene should remain Amber on Intellectual disability, until more evidence emerges.
Created: 29 Oct 2026, 12:44 p.m. | Last Modified: 29 Oct 2026, 12:44 p.m.
Panel Version: 11.67
PMID: 37017437 Pacheco et al., 2023
Report of a family with three siblings who are comp het for variants in CEP63, c.1125T>G, p.(Tyr375*) and c.595del, p.(Glu199Asnfs*11). Parents confirmed het for a variant each, unaffected. All siblings present with microcephaly and intellectual disability but only one has severe short stature. Head circumference at birth was -3.7 to -4.7 SD below mean for all 3 sibs. Seckel syndrome diagnosis.

PMID: 34068194 Makhdoom et al., 2021
Family 2 - consanguineous family with five affected members manifesting microcephaly of −11 to −15 SD and moderate ID. Affected individuals were homozygous for p.(Ser240Cysfs*16), in ASPM, and heterozygous for a c.1261A>T;p.(Thr421Ser) variant in CEP63.
An asymptomatic brother was het for both the ASPM variant and the CEP63 variant.
Authors pose that a heterozygous CEP63 variant aggravated the microcephaly and short stature severity phenotypes, caused by a biallelic ASPM mutation. ASPM is associated with Microcephaly 5, primary, autosomal recessive, OMIM:608716.

PMID: 21983783 Sir et al., 2011
First family described. Consanguineous Pakistani parents. Three family members had primary microcephaly at birth (head circumference −4SD to −6SD) and by five years showed mild/moderate mental retardation. To a lesser degree, they had proportionate short stature. "Mild Seckel syndrome" diagnosis. The affected individuals were homozygous for CEP63:c.129G>A, p.Trp43*. Functional studies detected some CEP63 protein in centrosomes of patient cells, implying the variant is hypomorphic.

Functional evidence: PMID: 26158450 - Marjanović et al., 2015 - CEP63 deficiency promotes p53-dependent microcephaly in mice - recapitulating Seckel syndrome seen in humans.
Created: 23 Oct 2026, 10:49 a.m. | Last Modified: 23 Oct 2026, 10:49 a.m.
Panel Version: 11.48

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Seckel syndrome 6 , OMIM:614728; Seckel syndrome 6, MONDO:0013871; SCKL6

Publications

Created: 23 Oct 2026, 10:49 a.m.
Last Modified: 23 Oct 2026, 10:49 a.m.
Panel version: 11.67

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

Created: 15 Dec 2017, 9:38 a.m.

Panel version: Imported from Intellectual disability update Dec 2017 panel version 0.13

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SECKEL SYNDROME 6

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Lu Raymond (university of cambridge )

I don't know

Created: 23 Feb 2016, 10:02 a.m.

Panel version: 0.306

Richard Scott (Genomics England Curator)

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

Panel version: 0.73

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Seckel syndrome 6 , OMIM:614728
  • Seckel syndrome 6, MONDO:0013871
  • SCKL6
OMIM
614724
Clinvar variants
Variants in CEP63
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Oct 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: CEP63 were changed from ?Seckel syndrome 6 614728; Developmental dyslexia to ?Seckel syndrome 6 , OMIM:614728; Seckel syndrome 6, MONDO:0013871; SCKL6

23 Oct 2026, Gel status: 2

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: CEP63 were set to 21983783; 26400686

23 Oct 2026, Gel status: 2

Set mode of inheritance

Ida Ertmanska (Genomics England Curator)

Mode of inheritance for gene: CEP63 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

11 Feb 2021, Gel status: 2

Clear Sources

Catherine Snow (Genomics England)

Source: Expert Review Red was removed from gene: CEP63

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