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Intellectual disability syndromic and non-syndromic

Gene: MPDZ

Green List (high evidence)

MPDZ (multiple PDZ domain crumbs cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000107186
EnsemblGeneIds (GRCh37): ENSG00000107186
OMIM: 603785, Gene2Phenotype
MPDZ is in 9 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ID seen as part of the brain phenotype in multiple families with hydrocephalus.
Created: 5 Dec 2019, 1:19 a.m. | Last Modified: 5 Dec 2019, 1:19 a.m.
Panel Version: 0.432

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrocephalus, congenital, 2, with or without brain or eye anomalies; OMIM #615219

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies
  • OMIM #615219
OMIM
603785
Clinvar variants
Variants in MPDZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Dec 2019, Gel status: 3

Set publications

Chirag Patel (Genetic Health Queensland)

Publications for gene MPDZ were changed from PubMed: 28556411; 23240096 to PubMed: 28556411; 23240096

5 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MPDZ. Source Expert list was added to MPDZ. Mode of inheritance for gene MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies; OMIM #615219

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MPDZ was added gene: MPDZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPDZ was set to Unknown