Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Gene: MPLKIP

Green List (high evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 3 unrelated cases reported in OMIM, confirmed DD gene for TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 and is green on the ID panel version 1.14. Discussed with Clinical team and want to include non-photosensitive trichothiodystrophy genes in this panel.
Created: 28 Nov 2016, 5:14 p.m.

Helen Savage (Congenica Ltd)

Red List (low evidence)

Does not fit inclusion criteria; no freckling or photosensitivity.
Created: 27 Jan 2016, 2:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non-photosensitive trichothiodystrophy 4

History Filter Activity

28 Nov 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28/Nov/2016: Panel combined and revised due to external and internal review.

28 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Nov 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MPLKIP was changed to BIALLELIC, autosomal or pseudoautosomal

24 Nov 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MPLKIP were set to Non-photosensitive trichothiodystrophy 4

27 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MPLKIP was created by ellenmcdonagh

27 Oct 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MPLKIP was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: UKGTN