1. Genes and Genomic Entities
  2. MPDZ

MPDZ

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

5 panels

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


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

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
Green MPDZ in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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
    Green MPDZ in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219