Callosome
Gene: CENPJ

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Multiple families reported with primary microcephaly, head circumference -7 to -17 S.D. Single family reported with the more severe Seckel syndrome. Mouse model.

Structural brain abnormalities are not a prominent feature.
Created: 13 Nov 2021, 12:55 a.m. | Last Modified: 13 Nov 2021, 12:55 a.m.

Panel Version: 0.334

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358

Publications

Created: 13 Nov 2021, 12:55 a.m.
Last Modified: 13 Nov 2021, 12:55 a.m.
Panel version: 0.334

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029
Seckel syndrome 4, MIM# 613676, MONDO:0013358

OMIM

609279

Clinvar variants

Variants in CENPJ

Penetrance

None

Publications

Panels with this gene