BRIDGE_SPEED_NEURO_20170705
Gene: CENPJ

CENPJ (centromere protein J)
EnsemblGeneIds (GRCh38): ENSG00000151849
EnsemblGeneIds (GRCh37): ENSG00000151849
OMIM: 609279, Gene2Phenotype
CENPJ is in 7 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_omim_20150205_microcephaly . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 8:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582
24896178
omim.org

Created: 2 Aug 2017, 1:47 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

Microcephaly 6, primary, autosomal recessive, 608393
Seckel syndrome 4, 613676

OMIM

609279

Clinvar variants

Variants in CENPJ

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

CENPJ was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created