1. Genes and Genomic Entities
  2. MPDZ

MPDZ

multiple PDZ domain crumbs cell polarity complex component
OMIM: 603785, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green MPDZ in Hydrocephalus


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Red MPDZ in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 615219
    Red MPDZ in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Red
    Phenotypes
    • Hydrocephalus, nonsyndromic, autosomal recessive 2
    Amber MPDZ in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
    Tags
    • Q3_23_promote_green
    • Q3_23_NHS_review