Syndromic Retinopathy

Gene: MPDZ

Amber List (moderate 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

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 reported siblings with syndromic maculopathy and 1 unpublished case with syndromic macular dystrophy (RMH). Multiple animal models with retinal degeneration consistent with RP/LCA.
Sources: Literature
Created: 20 Aug 2024, 1:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
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

20 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mpdz has been classified as Amber List (Moderate Evidence).

20 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mpdz has been classified as Amber List (Moderate Evidence).

20 Aug 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MPDZ was added gene: MPDZ was added to Syndromic Retinopathy. Sources: Literature Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDZ were set to 36594712; 22159006; 21862650 Phenotypes for gene: MPDZ were set to hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219 Review for gene: MPDZ was set to AMBER gene: MPDZ was marked as current diagnostic