MPZ

myelin protein zero
OMIM: 159440, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red MPZ in White matter disorders and cerebral calcification - narrow panel Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Neuropathy,congenital hypomyelinating,605253 Congenital Hypomyelination
Red MPZ in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Hypomyelination Neuropathy,congenital hypomyelinating,605253
Red MPZ in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Neuropathy, congenital hypomyelinating 605253
Red MPZ in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red PAGE Additional Gene List Phenotypes Charcot-Marie-Tooth disease, type 1B 118200 Charcot-Marie-Tooth disease, type 2I 607677 Roussy-Levy syndrome 180800 Dejerine-Sottas disease 145900 Charcot-Marie-Tooth disease, type 2J 607736 Charcot-Marie-Tooth disease, dominant intermediate D 607791 Neuropathy, congenital hypomyelinating 605253
Green MPZ in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184
Green MPZ in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Eligibility statement prior genetic testing Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Charcot Marie Tooth disease, type 2I, 607677 Charcot Marie Tooth disease, type 1B, 118200 Charcot Marie Tooth disease, type 2J, 607736 Roussy Levy syndrome, 180800 Charcot Marie Tooth disease, type 2J, 607736 Roussy Levy syndrome, 180800 Charcot Marie Tooth disease, type 2I, 607677 Charcot Marie Tooth disease, dominant intermediate D, 607791 Dejerine Sottas disease, 145900 Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, dominant intermediate D, 607791 Neuropathy, congenital hypomyelinating, 605253 Neuropathy, congenital hypomyelinating, 605253
Red MPZ in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Associated with Charcot-Marie-Tooth disease, dominant intermediate D ( 607791) Charcot-Marie-Tooth disease, type 1B
Green MPZ in Hereditary neuropathy or pain disorder Version 4.11 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Neuropathy, congenital hypomyelinating, 605253 Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, dominant intermediate D, 607791 Roussy Levy syndrome, 180800 Charcot Marie Tooth disease, type 2J, 607736 Charcot Marie Tooth disease, type 1B, 118200 Charcot Marie Tooth disease, type 2I, 607677
Green MPZ in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, type 2I, 607677 Dejerine-Sottas disease, 145900 Charcot-Marie-Tooth disease, type 2J, 607736 Roussy-Levy syndrome, 180800 Charcot-Marie-Tooth disease, type 1B, 118200 Hypomyelinating neuropathy, congenital, 2, 618184 Charcot-Marie-Tooth disease, dominant intermediate D, 607791