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Intellectual disability

Gene: CEP295

Amber List (moderate evidence)
CEP295 (centrosomal protein 295)
EnsemblGeneIds (GRCh38): ENSG00000166004
EnsemblGeneIds (GRCh37): ENSG00000166004
OMIM: 617728, Gene2Phenotype
CEP295 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

PMID:38154379 reported four individuals from two unrelated families with severe primary microcephaly, short stature, global developmental delay, mild intellectual disability, facial deformities, and abnormalities of fingers and toes, suggesting a Seckel-like syndrome. They were identified with compound heterozygous variants in CEP295 gene. There is also functional evidence available.

This gene has been associated with relevant phenotype in OMIM, but not yet in Gene2Phenotype.
Created: 26 Apr 2024, 9:55 p.m. | Last Modified: 26 Apr 2024, 9:55 p.m.
Panel Version: 5.555

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 11, OMIM:620767

Publications

Created: 26 Apr 2024, 9:55 p.m.
Last Modified: 26 Apr 2024, 9:55 p.m.
Panel version: 5.555

Zornitza Stark (Australian Genomics)

Green List (high evidence)

4 children from 2 unrelated families with Seckel-like syndrome - severe primary microcephaly, short stature, developmental delay, intellectual disability, facial deformities, and abnormalities of fingers and toes. WES identified biallelic pathogenic variants in CEP295 gene (p(Q544∗) and p(R1520∗); p(R55Efs∗49) and p(P562L)).

Patient-derived fibroblasts and CEP295-depleted U2OS and RPE1 cells were used to clarify the underlying mechanisms. Depletion of CEP295 resulted in a decrease in the numbers of centrioles and centrosomes and triggered p53-dependent G1 cell cycle arrest. Loss of CEP295 caused extensive primary ciliary defects in both patient-derived fibroblasts and RPE1 cells. The results from complementary experiments revealed that the wild-type CEP295, but not the mutant protein, can correct the developmental defects of the centrosome/centriole and cilia in the patient-derived skin fibroblasts.
Sources: Expert Review
Created: 19 Apr 2024, 8:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 11, OMIM # 620767

Publications

Created: 19 Apr 2024, 8:37 a.m.

Panel version: 5.532

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Seckel syndrome 11, OMIM:620767
OMIM
617728
Clinvar variants
Variants in CEP295
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Apr 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CEP295 were changed from Seckel syndrome 11, OMIM # 620767 to Seckel syndrome 11, OMIM:620767

26 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: cep295 has been classified as Amber List (Moderate Evidence).

19 Apr 2024, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CEP295 was added gene: CEP295 was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Mode of inheritance for gene: CEP295 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP295 were set to 38154379 Phenotypes for gene: CEP295 were set to Seckel syndrome 11, OMIM # 620767