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  3. PCLO
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Genetic Epilepsy

Gene: PCLO

Red List (low evidence)
PCLO (piccolo presynaptic cytomatrix protein)
EnsemblGeneIds (GRCh38): ENSG00000186472
EnsemblGeneIds (GRCh37): ENSG00000186472
OMIM: 604918, Gene2Phenotype
PCLO is in 5 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 25832664: Seizures are part of the phenotype, but a single consanguineous family reported with bi-allelic variant in this gene.

PMID: 32122952: Knockout PCLO rats had a smaller cerebral cortex, a reduced volume of the cerebellum and pons, as well as impaired motor control and the presence of seizures BUT they don’t talk about seizures in the results, only introduction and discussion
Sources: Literature
Created: 20 Dec 2023, 1:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 3, MIM#608027

Publications

Created: 20 Dec 2023, 1:26 a.m.

Panel version: 0.2060

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia, type 3, MIM#608027
OMIM
604918
Clinvar variants
Variants in PCLO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Dec 2023, Gel status: 0

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

Lauren Rogers (Victorian Clinical Genetics Services)

gene: PCLO was added gene: PCLO was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCLO were set to 25832664; 32122952 Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia, type 3, MIM#608027 Review for gene: PCLO was set to RED