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Intellectual disability update Jan 2018

Gene: MPDZ

Red List (low evidence)
MPDZ (multiple PDZ domain crumbs cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000107186
EnsemblGeneIds (GRCh37): ENSG00000107186
OMIM: 603785, Gene2Phenotype
MPDZ is in 5 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: In OMIM and Gene2Phenotype associated with Hydrocephalus, nonsyndromic, autosomal recessive 2 615219. 1 case reported only with mild intellectual disability. Al-Dosari 2013 (PMID:23240096)
Created: 8 Mar 2018, 3 p.m.
Created: 8 Mar 2018, 2:34 p.m.

Panel version: 0.452

Details

Sources
  • Expert Review Red
Phenotypes
  • Hydrocephalus, nonsyndromic, autosomal recessive 2 615219
OMIM
603785
Clinvar variants
Variants in MPDZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

8 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for MPDZ were set to 23240096

8 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MPDZ was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MPDZ was created by Ellen McDonagh