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Intellectual disability syndromic and non-syndromic

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)

PMID 34068194: two further families reported with Seckel syndrome, same homozygous missense, founder?
Created: 2 Feb 2022, 9:22 p.m. | Last Modified: 2 Feb 2022, 9:22 p.m.
Panel Version: 0.4488
Multiple families reported with primary microcephaly, head circumference -7 to -17 S.D, and ID. Single family reported with the more severe Seckel syndrome. Mouse model.
Created: 13 Nov 2021, 12:58 a.m. | Last Modified: 13 Nov 2021, 12:58 a.m.
Panel Version: 0.4266

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

History Filter Activity

2 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CENPJ were set to 20522431; 23166506; 15793586; 20978018; 22775483; 32677750; 32549991

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

13 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CENPJ were set to

13 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CENPJ was added gene: CENPJ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CENPJ was set to Unknown