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Intellectual disability syndromic and non-syndromic

Gene: PPP5C

Amber List (moderate evidence)

PPP5C (protein phosphatase 5 catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000011485
EnsemblGeneIds (GRCh37): ENSG00000011485
OMIM: 600658, Gene2Phenotype
PPP5C is in 2 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

I don't know

PMID: 35361529 - reported a de novo missense in a proband with microcephaly, developmental delay and epilepsy. However, after personal communication with the undiagnosed disease network this proband has since been found to have a different diagnosis with a nonsense and a missense in VARS1 identified, so unclear if the PPP5C variant is contributing to their phenotype.

3 more probands with de novo missense variants have been published in large autism or developmental disorder cohort with limited information (PMIDs: 25363768, 33057194)

An internal VCGS proband with intellectual disability and failure to thrive was also found to have a de novo missense variant in this gene.
Sources: Literature
Created: 2 Dec 2024, 3:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, PPP5C-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, PPP5C-related
OMIM
600658
Clinvar variants
Variants in PPP5C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ppp5c has been classified as Amber List (Moderate Evidence).

4 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ppp5c has been classified as Amber List (Moderate Evidence).

2 Dec 2024, Gel status: 0

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

Lucy Spencer (Victorian Clinical Genetics Services)

gene: PPP5C was added gene: PPP5C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PPP5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP5C were set to 35361529; 25363768; 33057194 Phenotypes for gene: PPP5C were set to Neurodevelopmental disorder, MONDO:0700092, PPP5C-related Review for gene: PPP5C was set to AMBER