Severe microcephaly
Gene: CENPJEnsemblGeneIds (GRCh38): ENSG00000151849
EnsemblGeneIds (GRCh37): ENSG00000151849
OMIM: 609279, Gene2Phenotype
CENPJ is in 7 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for CENPJ is CPAP.Created: 28 Oct 2024, 2:03 p.m. | Last Modified: 28 Oct 2024, 2:03 p.m.
Panel Version: 6.8
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Alice Gardham (Genomics England)
Comment when marking as ready: expert list. Multiple affected individuals reported. Confirmed as DD on G2PCreated: 12 Jan 2017, 10:40 a.m.
Comment when marking as ready: expert list. Multiple affected individuals reported. Confirmed as DD on G2PCreated: 12 Jan 2017, 10:40 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Other
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- MCPH
- primary microcephaly
- Primary Microcephaly, Recessive
- Microcephaly 6, primary, autosomal recessive, 608393
- ?Seckel syndrome 4, 613676
- Microcephaly
- microcephaly primary type 6 (MCPH6), 608393
- Tags
- OMIM
- 609279
- Clinvar variants
- Variants in CENPJ
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to gene: CENPJ.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CENPJ.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for CENPJ were set to 16900296,
Added New Source
Rebecca Foulger (Genomics England curator)CENPJ was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
Added New Source
Rebecca Foulger (Genomics England curator)CENPJ was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)CENPJ was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)CENPJ was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Rebecca Foulger (Genomics England curator)CENPJ was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
Created
Rebecca Foulger (Genomics England curator)CENPJ was created by rfoulger