MPLKIP

M-phase specific PLK1 interacting protein
OMIM: 609188
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 234050
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy, nonphotosensitive 1, 234050, TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 4, nonphotosensitive, OMIM:234050
R-numbers: R227
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-photosensitive trichothiodystrophy 4