Genes in panel

Neurodegenerative disorders - adult onset

Gene: PCLO

Red List (low evidence)

PCLO (piccolo presynaptic cytomatrix protein)
EnsemblGeneIds (GRCh38): ENSG00000186472
EnsemblGeneIds (GRCh37): ENSG00000186472
OMIM: 604918, Gene2Phenotype
PCLO is in 8 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
OMIM
604918
Clinvar variants
Variants in PCLO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PCLO was added gene: PCLO was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCLO were set to PMID: 25832664 Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.