Early onset or syndromic epilepsy
Gene: PCLO
no new data supporting epilepsyCreated: 16 Jan 2024, 7:52 p.m. | Last Modified: 16 Jan 2024, 7:52 p.m.
Panel Version: 4.144
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Pontocerebellar hypoplasia, type 3, 608027
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.
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
Gene: pclo has been classified as Red List (Low Evidence).
Source Wessex and West Midlands GLH was added to PCLO.
Source NHS GMS was added to PCLO.
Zornitza Stark: Seizures are part of the pheno
Gene: pclo has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to PCLO. Panel: Genetic Epilepsy Syndromes
PCLO was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
PCLO was created by Sarah Leigh