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  3. PCLO
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Cerebellar hypoplasia

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

1 review

emma baple (Genomics England Curator)

Comment when marking as ready: single Omani founder mutation
Created: 11 Jul 2016, 8:21 p.m.
Created: 11 Jul 2016, 8:21 p.m.

Panel version: 0.44

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar Hypoplasia type 3
OMIM
604918
Clinvar variants
Variants in PCLO
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 May 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

20 Jan 2016, Gel status: 0

Added New Source

Helen Savage (Congenica Ltd)

PCLO was added to Cerebellar hypoplasiapanel. Sources: Literature

20 Jan 2016, Gel status: 0

Created

Helen Savage (Congenica Ltd)

PCLO was created by helen.savage