Genomics England
GMS Panels
Panels
Genes and Entities

MPLKIP

M-phase specific PLK1 interacting protein
OMIM: 609188
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 234050
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy, nonphotosensitive 1, 234050, TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1
Green
in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
R-numbers: R227
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-photosensitive trichothiodystrophy 4