Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: MPZ

Red List (low evidence)

MPZ (myelin protein zero)
EnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 7 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Arthrogryposis only reported in one patient
Created: 5 Jan 2017, 9:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, congenital hypomyelinating 605253

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Neuropathy, congenital hypomyelinating 605253
OMIM
159440
Clinvar variants
Variants in MPZ
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

5 Jan 2017, Gel status: 0

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for MPZ were set to Neuropathy, congenital hypomyelinating 605253

5 Jan 2017, Gel status: 0

Set publications

Alice Gardham (Genomics England)

Publications for MPZ were set to 8816708; 26310628

5 Jan 2017, Gel status: 0

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for MPZ was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MPZ was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MPZ was added to Arthrogryposispanel. Sources: Expert list