Cerebral vascular malformations
Gene: CENPJ

CENPJ (centromere protein J)
EnsemblGeneIds (GRCh38): ENSG00000151849
EnsemblGeneIds (GRCh37): ENSG00000151849
OMIM: 609279, Gene2Phenotype
CENPJ is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for CENPJ is CPAP.
Created: 28 Oct 2024, 2:02 p.m. | Last Modified: 28 Oct 2024, 2:02 p.m.

Panel Version: 3.16

Created: 28 Oct 2024, 2:02 p.m.
Last Modified: 28 Oct 2024, 2:02 p.m.
Panel version: 3.16

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: recognised on G2P but mutations only identified in one family
Created: 15 Dec 2016, 9 a.m.

Moyamoya and intracerebral aneurysms reported in Seckel syndrome
Created: 14 Dec 2016, 5:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 4 613676

Created: 14 Dec 2016, 5:20 p.m.

Panel version: 0.56

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Yorkshire and North East GLH
NHS GMS
Expert Review Red
Illumina TruGenome Clinical Sequencing Services
UKGTN
Radboud University Medical Center, Nijmegen
Literature

Phenotypes

Seckel syndrome 4 613676

Tags

new-gene-name

OMIM

609279

Clinvar variants

Variants in CENPJ

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Oct 2024, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: CENPJ.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CENPJ.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CENPJ.

19 Dec 2016, Gel status: 1