Hydrocephalus

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 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Number of unrelated cases in double figures. Macrocephaly a consistent feature and hydrocephalus reported in some.
Created: 9 May 2017, 1:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 35

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 35
OMIM
601646
Clinvar variants
Variants in PPP2R5D
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PPP2R5D.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PPP2R5D was added to Hydrocephaluspanel. Source: Expert Review Green

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

PPP2R5D was added to Hydrocephaluspanel. Sources: Literature

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

PPP2R5D was created by helen.brittain