Hydrocephalus

Gene: MPDZ

Amber List (moderate evidence)

MPDZ (multiple PDZ domain crumbs cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000107186
EnsemblGeneIds (GRCh37): ENSG00000107186
OMIM: 603785, Gene2Phenotype
MPDZ is in 3 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 only enough evidence to rate this gene Amber
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)

I don't know

Comment when marking as ready: Insufficient evidence based upon information available, but extremely borderline. Could reach to three+ unrelated families, but based upon lack of confirmation added as watchlist at present.
Created: 4 May 2017, 9:51 a.m.
Two apparently unrelated Saudi families, but with the same nonsense mutation in PMID 23240096. Three fetuses reported in PMID 28460636 (only abstract accessed and therefore mutation information and whether they are from single family is not known). As a caution, evidence not considered clear enough for inclusion but watchlist appropriate.
Created: 4 May 2017, 9:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrocephalus, nonsyndromic, autosomal recessive 2 615219

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hydrocephalus, nonsyndromic, autosomal recessive 2 615219
Tags
watchlist
OMIM
603785
Clinvar variants
Variants in MPDZ
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MPDZ.

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

4 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 May 2017, Gel status: 2

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for MPDZ were set to Hydrocephalus, nonsyndromic, autosomal recessive 2 615219

4 May 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for MPDZ were set to 23240096; 28460636

4 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

MPDZ was created by oniblock

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

MPDZ was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen