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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 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high 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.
Created: 13 Nov 2021, 12:50 a.m. | Last Modified: 13 Nov 2021, 12:50 a.m.
Panel Version: 0.413

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 6, primary, autosomal recessive, MIM# 608393; Seckel syndrome 4, MIM# 613676

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Microcephaly 6, primary, autosomal recessive, MIM# 608393
  • Seckel syndrome 4, MIM# 613676
OMIM
609279
Clinvar variants
Variants in CENPJ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cenpj has been classified as Green List (High Evidence).

13 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CENPJ were changed from SECKEL SYNDROME TYPE 4; MICROCEPHALY PRIMARY TYPE 6 to Microcephaly 6, primary, autosomal recessive, MIM# 608393; Seckel syndrome 4, MIM# 613676

13 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CENPJ were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CENPJ was added gene: CENPJ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CENPJ were set to SECKEL SYNDROME TYPE 4; MICROCEPHALY PRIMARY TYPE 6