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  3. CENPJ
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Growth failure

Gene: CENPJ

Amber List (moderate 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)

I don't know

PMID 34068194: two further families reported, same homozygous missense, founder?
Created: 2 Feb 2022, 9:19 p.m. | Last Modified: 2 Feb 2022, 9:19 p.m.
Panel Version: 1.32
Single family reported with Seckel phenotype and supportive mouse model. However, bi-allelic variants in this gene are typically associated with microcephaly without short stature.
Created: 18 Aug 2021, 8:26 a.m. | Last Modified: 18 Aug 2021, 8:26 a.m.
Panel Version: 0.193

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 4, MIM# 613676

Publications

Created: 18 Aug 2021, 8:26 a.m.
Last Modified: 18 Aug 2021, 8:26 a.m.
Panel version: 1.32

Details

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

History Filter Activity

2 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cenpj has been classified as Amber List (Moderate Evidence).

18 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cenpj has been classified as Red List (Low Evidence).

18 Aug 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CENPJ were changed from seckel syndrome to Seckel syndrome 4, MIM# 613676

18 Aug 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CENPJ were set to 20522431

19 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CENPJ was added gene: CENPJ was added to Growth failure in early childhood. Sources: Genomics England PanelApp,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