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Intellectual disability

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

Zornitza Stark (Australian Genomics)

I don't know

Two individuals from a single family with bi-allelic variants in this gene reported. Consider Amber/Red status.
Created: 22 Jun 2018, 12:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 3

Publications

Details

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

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PCLO.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

PCLO was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

PCLO was created by Zornitza Stark