Cerebral vascular malformations

Gene: CENPJ

Red List (low evidence)

CENPJ (centromere protein J)
EnsemblGeneIds (GRCh38): ENSG00000151849
EnsemblGeneIds (GRCh37): ENSG00000151849
OMIM: 609279, Gene2Phenotype
CENPJ is in 8 panels

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Seckel syndrome 4 613676
OMIM
609279
Clinvar variants
Variants in CENPJ
Penetrance
Complete
Panels with this gene

History Filter Activity

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

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

15 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

14 Dec 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

CENPJ was added to Cerebrovascular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Literature

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

CENPJ was created by agardham