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  2. Fetal anomalies
  3. CENPJ
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Fetal anomalies

Gene: CENPJ

Green List (high evidence)
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, 2:03 p.m. | Last Modified: 28 Oct 2024, 2:03 p.m.
Panel Version: 4.198
Created: 28 Oct 2024, 2:03 p.m.
Last Modified: 28 Oct 2024, 2:03 p.m.
Panel version: 4.198

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 12:28 p.m.
DDG2P rating in original PAGE list: Confirmed for MICROCEPHALY PRIMARY TYPE 6 and Confirmed for SECKEL SYNDROME TYPE 4.
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.222

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROCEPHALY PRIMARY TYPE 6
  • SECKEL SYNDROME TYPE 4
Tags
new-gene-name
OMIM
609279
Clinvar variants
Variants in CENPJ
Penetrance
None
Panels with this gene

History Filter Activity

28 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SECKEL SYNDROME TYPE 4 for gene: CENPJ

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CENPJ was added gene: CENPJ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CENPJ were set to MICROCEPHALY PRIMARY TYPE 6