Inherited white matter disorders
Gene: MPLKIP
MPLKIP (M-phase specific PLK1 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000168303
EnsemblGeneIds (GRCh37): ENSG00000168303
OMIM: 609188, Gene2Phenotype
MPLKIP is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000168303
EnsemblGeneIds (GRCh37): ENSG00000168303
OMIM: 609188, Gene2Phenotype
MPLKIP is in 9 panels
1 review
Ellen McDonagh (Genomics England Curator)
On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for L2-Hydroxyglutaric aciduria. It is a confirmed DD gene for TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1. There are more than 3 unrelated cases with different variants reported in OMIM. It is not on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory.Created: 26 Aug 2016, 11:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy, nonphotosensitive
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Trichothiodystrophy, nonphotosensitive
- OMIM
- 609188
- Clinvar variants
- Variants in MPLKIP
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
6 Oct 2016, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
6 Oct 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Oct 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 Aug 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
26 Aug 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)MPLKIP was added to Inherited white matter disorderspanel. Sources: Literature
26 Aug 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MPLKIP was created by ellenmcdonagh