Hydrocephalus_Ventriculomegaly
Gene: MPDZ

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants. Mouse model.
Created: 8 Aug 2020, 12:56 a.m. | Last Modified: 8 Aug 2020, 12:58 a.m.

Panel Version: 0.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 8 Aug 2020, 12:56 a.m.
Last Modified: 8 Aug 2020, 12:58 a.m.
Panel version: 0.34

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219

OMIM

603785

Clinvar variants

Variants in MPDZ

Penetrance

None

Publications

Panels with this gene