1. Panels
  2. Macrocephaly_Megalencephaly
  3. PPP2R5D
STRs in panel
Prev Next
Regions in panel
Prev Next

Macrocephaly_Megalencephaly

Gene: PPP2R5D

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Phenotype of macrocephaly is consistent, and multiple patients reported
Sources: Literature
Created: 31 Aug 2021, 12:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 35, MIM# 616355

Publications

Created: 31 Aug 2021, 12:58 a.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
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 Houge-Janssens syndrome 1, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355

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

31 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: ppp2r5d has been classified as Green List (High Evidence).

31 Aug 2021, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: PPP2R5D was added gene: PPP2R5D was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R5D were set to PMID: 26168268, 25972378, 25533962; 34448180 Phenotypes for gene: PPP2R5D were set to Mental retardation, autosomal dominant 35, MIM# 616355 Review for gene: PPP2R5D was set to GREEN