MPDZ

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green MPDZ in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219

Green MPDZ in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219

Green MPDZ in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219

Green MPDZ in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies
  • OMIM #615219

Amber MPDZ in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.219

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219

    Green MPDZ in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)

    Red MPDZ in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.67

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related

    Green MPDZ in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Hydrocephalus, congenital, 2, with or without brain or eye anomalies- #615219
    Tags
    • founder

    Green MPDZ in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219