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  2. Early onset or syndromic epilepsy
  3. PCLO
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Early onset or syndromic epilepsy

Gene: PCLO

Red List (low evidence)
PCLO (piccolo presynaptic cytomatrix protein)
EnsemblGeneIds (GRCh38): ENSG00000186472
EnsemblGeneIds (GRCh37): ENSG00000186472
OMIM: 604918, Gene2Phenotype
PCLO is in 9 panels

5 reviews

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

no new data supporting epilepsy
Created: 16 Jan 2024, 7:52 p.m. | Last Modified: 16 Jan 2024, 7:52 p.m.
Panel Version: 4.144
Created: 16 Jan 2024, 7:52 p.m.
Last Modified: 16 Jan 2024, 7:52 p.m.
Panel version: 4.144

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Pontocerebellar hypoplasia, type 3, 608027

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

Comment on list classification: There is not enough evidence for this gene to be Amber on this panel.
Created: 5 Mar 2024, 11:17 a.m. | Last Modified: 5 Mar 2024, 11:17 a.m.
Panel Version: 4.178
Comment when marking as ready: Based on reviewers' comments.
Created: 11 Dec 2018, 1:16 p.m.
Created: 11 Dec 2018, 1:16 p.m.

Panel version: 0.1529

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Seizures are part of the phenotype, but a single consanguineous family reported with bi-allelic variant in this gene.
Created: 18 Aug 2018, 9:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 3, MIM#608027

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 18 Aug 2018, 9:59 a.m.

Panel version: 0.335

History Filter Activity

5 Mar 2024, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PCLO.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PCLO.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PCLO. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PCLO was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PCLO was created by Sarah Leigh