Monogenic short stature
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, 2:04 p.m. | Last Modified: 28 Oct 2024, 2:04 p.m.

Panel Version: 1.1

Created: 28 Oct 2024, 2:04 p.m.
Last Modified: 28 Oct 2024, 2:04 p.m.
Panel version: 1.1

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Seckel syndrome is distinguishable due to marked microcephaly and therefore would be investigated under severe microcephaly R88. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.

Created: 30 May 2019, 9:49 a.m.

Copied from panel: Growth failure in early childhood v3.78

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

seckel syndrome

Tags

new-gene-name

OMIM

609279

Clinvar variants

Variants in CENPJ

Penetrance

None

Publications

20522431

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.

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: CENPJ was added gene: CENPJ was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPJ were set to 20522431 Phenotypes for gene: CENPJ were set to seckel syndrome

Monogenic short stature Gene: CENPJ