Microcephaly
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)

Green List (high evidence)

PMID 34068194: two further families reported with Seckel syndrome, same homozygous missense, founder?
Created: 2 Feb 2022, 9:21 p.m. | Last Modified: 2 Feb 2022, 9:21 p.m.

Panel Version: 1.101

More than 5 unrelated families reported with microcephaly and ID, and a single family with a Seckel-like phenotype.
Created: 9 Mar 2021, 11:03 a.m. | Last Modified: 9 Mar 2021, 11:03 a.m.

Panel Version: 0.541

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: 9 Mar 2021, 11:03 a.m.
Last Modified: 9 Mar 2021, 11:03 a.m.
Panel version: 1.101

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
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