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  3. MPDZ
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Deafness_Isolated

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 9 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Comment on list classification: Single affected family, no functional studies on variant
Created: 2 Feb 2022, 12:20 a.m. | Last Modified: 2 Feb 2022, 12:20 a.m.
Panel Version: 1.22
Created: 2 Feb 2022, 12:20 a.m.
Last Modified: 2 Feb 2022, 12:20 a.m.
Panel version: 1.22

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.
Sources: Literature
Created: 2 Feb 2022, 12:14 a.m.

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

Created: 2 Feb 2022, 12:14 a.m.

Panel version: 1.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related
OMIM
603785
Clinvar variants
Variants in MPDZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: mpdz has been classified as Red List (Low Evidence).

2 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: mpdz has been classified as Red List (Low Evidence).

2 Feb 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Paul De Fazio (Victorian Clinical Genetics Services)

gene: MPDZ was added gene: MPDZ was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDZ were set to 34135477; 29026089 Phenotypes for gene: MPDZ were set to Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Review for gene: MPDZ was set to AMBER gene: MPDZ was marked as current diagnostic