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  2. Hereditary ataxia with onset in adulthood
  3. PCLO
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Hereditary ataxia with onset in adulthood

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

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED
Created: 19 Jun 2019, 5:21 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.171

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Only a single family reported in the lit with a homozygous nonsense mutation
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 3, 608027

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

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Red
  • Hereditary ataxia v1.148
Phenotypes
  • Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
  • Pontocerebellar hypoplasia type 3, 608027
OMIM
604918
Clinvar variants
Variants in PCLO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pontocerebellar hypoplasia type 3, 608027 for gene: PCLO

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PCLO.

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to PCLO.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

15 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PCLO was added gene: PCLO was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCLO were set to 25832664 Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.