Fetal anomalies
Gene: PPP2R5D

PPP2R5D (protein phosphatase 2 regulatory subunit B'delta)
EnsemblGeneIds (GRCh38): ENSG00000112640
EnsemblGeneIds (GRCh37): ENSG00000112640
OMIM: 601646, Gene2Phenotype
PPP2R5D is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

(P/LP in ClinVar): >15 missense, 1 PTC DN missense mechanism suspected: Functional studies showed defective holoenzyme assembly in transfected HEK293 cells and mutant subunits hindering dephosphorylation of B56δ-anchored substrates. Moreover,. p.P53S was the only variant to not show defective binding - authors speculate an alternative mechanism. Unknown mechanism for PTCs: pLI = 1 and very few in gnomAD. Missense variants cluster p.198-207 (Decipher).

Hydrocephalus reported in some.
Created: 16 Jan 2021, 1:32 a.m. | Last Modified: 2 Mar 2022, 5:22 a.m.

Panel Version: 0.4535

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 35, MIM#616355

Publications

Mode of pathogenicity
Other

Created: 16 Jan 2021, 1:32 a.m.
Last Modified: 2 Mar 2022, 5:22 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3387

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Houge-Janssens syndrome 1, MIM#616355

OMIM

601646

Clinvar variants

Variants in PPP2R5D

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355

2 Mar 2022, Gel status: 3