Cerebral vascular malformations
Gene: CENPJ

CENPJ (centromere protein J)
EnsemblGeneIds (GRCh38): ENSG00000151849
EnsemblGeneIds (GRCh37): ENSG00000151849
OMIM: 609279, Gene2Phenotype
CENPJ is in 12 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

CENPJ typically associated with seckel syndrome type 4 which hasn't been associated with any cerebral vascular findings.

PMID: 20522431 - Consanguineous family reported with seckel syndrome however no evidence of cerebral vascular malformation was identified on any brain imaging.
Created: 25 Nov 2024, 1:27 a.m. | Last Modified: 25 Nov 2024, 1:27 a.m.

Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome MONDO:0019342

Publications

20522431

Created: 25 Nov 2024, 1:27 a.m.
Last Modified: 25 Nov 2024, 1:27 a.m.
Panel version: 0.39

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Genomics England PanelApp
Expert Review Red

Phenotypes

Seckel syndrome 4 613676

OMIM

609279

Clinvar variants

Variants in CENPJ

Penetrance

None

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CENPJ was added gene: CENPJ was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CENPJ were set to Seckel syndrome 4 613676

Cerebral vascular malformations Gene: CENPJ