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Mendeliome

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

2 reviews

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Homozygous missense variant p.(Pro775Leu) identified in 2 affected siblings from a single consanguineous Pakistani family by WES. A third unaffected sibling was homozygous wild type. Variant is in gnomad (8 hets, 0 hom).

RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only). A mouse model has increased threshold for auditory brainstem response.
Created: 2 Feb 2022, 12:14 a.m. | Last Modified: 2 Feb 2022, 12:14 a.m.
Panel Version: 0.10853

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

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, 12:58 a.m. | Last Modified: 8 Aug 2020, 12:58 a.m.
Panel Version: 0.3718

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

History Filter Activity

8 Aug 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).

8 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219

8 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MPDZ were set to

8 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MPDZ was set to Unknown