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  3. MPLKIP
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Leukodystrophy - paediatric

Gene: MPLKIP

Red List (low evidence)
MPLKIP (M-phase specific PLK1 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000168303
EnsemblGeneIds (GRCh37): ENSG00000168303
OMIM: 609188, Gene2Phenotype
MPLKIP is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

White matter changes have been reported in association with trichothiodystrophy, but has not been reported in this subtype of the disease.
Sources: Expert list
Created: 18 Jan 2020, 8:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 4, nonphotosensitive 234050

Created: 18 Jan 2020, 8:35 a.m.

Panel version: 0.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive 234050
OMIM
609188
Clinvar variants
Variants in MPLKIP
Penetrance
None
Panels with this gene

History Filter Activity

18 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MPLKIP was added gene: MPLKIP was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive 234050 Review for gene: MPLKIP was set to RED