Arthrogryposis
Gene: MPZ
MPZ (myelin protein zero)
EnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 8 panels
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