MPZ

myelin protein zero
OMIM: 159440, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green MPZ in Mendeliome Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot Marie Tooth disease, dominant intermediate D, 60779 Neuropathy, congenital hypomyelinating, 605253 Charcot Marie Tooth disease, type 2J, 607736 Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, type 1B, 118200 Charcot Marie Tooth disease, type 2I, 607677 HMSN
Red MPZ in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Phenotypes Syndromic auditory neuropathy spectrum disorder
Red MPZ in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Various CMT types
Green MPZ in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes Charcot Marie Tooth disease, dominant intermediate D, 60779 Neuropathy, congenital hypomyelinating, 605253 Charcot Marie Tooth disease, type 2J, 607736 Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, type 1B, 118200 Charcot Marie Tooth disease, type 2I, 607677 HMSN
Green MPZ in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dejerine-Sottas disease, 145900 (3)
Green MPZ in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease
Green MPZ in Fetal anomalies Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Hypomyelinating neuropathy, congenital, 2, MIM# 618184
Green MPZ in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dejerine-Sottas disease, 145900 (3)
Red MPZ in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Charcot Marie Tooth disease, dominant intermediate D, 60779 Neuropathy, congenital hypomyelinating, 605253 Charcot Marie Tooth disease, type 2J, 607736 Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, type 1B, 118200 Charcot Marie Tooth disease, type 2I, 607677