MPDZ

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MPDZ in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

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 0.123

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 1.1891

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 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies
  • OMIM #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 1.63

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 1.255

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 1.9

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