MPDZ

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green MPDZ in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.53	1 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 0.132	1 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 1.3795	2 reviews	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
Red MPDZ in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Phenotypes Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related
Green MPDZ in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 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 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	1 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 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)
Green MPDZ in Fetal anomalies Version 1.481	1 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 2.15	1 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