Syndromic Retinopathy
Gene: MPDZEnsemblGeneIds (GRCh38): ENSG00000107186
EnsemblGeneIds (GRCh37): ENSG00000107186
OMIM: 603785, Gene2Phenotype
MPDZ is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
2 reported siblings with syndromic maculopathy and 1 unpublished case with syndromic macular dystrophy (RMH).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: LiteratureCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mpdz has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mpdz has been classified as Amber List (Moderate Evidence).
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