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Prepair 1000+

Gene: MPZ

Green List (high evidence)

MPZ (myelin protein zero)
EnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 3 families reported with biallelic variants. Childhood/congenital onset.
Created: 17 Aug 2022, 6:28 a.m. | Last Modified: 17 Aug 2022, 6:29 a.m.
Panel Version: 0.126

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dejerine-Sottas disease, MIM#145900

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well established gene-disease association, most associations are for mono-allelic variants, but several families with bi-allelic variants also reported (where heterozygous patients show a milder phenotype).

1) Charcot-Marie-Tooth disease, dominant intermediate D, MIM#607791 AD
2) Charcot-Marie-Tooth disease, type 1B, MIM#118200 AD
3) Charcot-Marie-Tooth disease, type 2I, MIM#607677 AD
4) Charcot-Marie-Tooth disease, type 2J, MIM#607736 AD
5) Dejerine-Sottas disease, MIM#145900 AR, AD
6) Hypomyelinating neuropathy, congenital, 2, MIM#618184 AD
7) Roussy-Levy syndrome, MIM#180800 AD
Created: 19 Jul 2022, 10:41 p.m. | Last Modified: 19 Jul 2022, 10:41 p.m.
Panel Version: 0.50

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate D (MIM#607791); Charcot-Marie-Tooth disease, type 1B (MIM#118200); Charcot-Marie-Tooth disease, type 2I (MIM#607677); Charcot-Marie-Tooth disease, type 2J (MIM#607736); Dejerine-Sottas disease (MIM#145900); Hypomyelinating neuropathy, congenital, 2 (MIM#618184); Roussy-Levy syndrome (MIM#180800)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dejerine-Sottas disease, 145900 (3)
OMIM
159440
Clinvar variants
Variants in MPZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mpz has been classified as Green List (High Evidence).

17 Aug 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MPZ were set to

17 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: MPZ.

20 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: MPZ.

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MPZ was added gene: MPZ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MPZ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPZ were set to Dejerine-Sottas disease, 145900 (3)