Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndromeGene: MPLKIP
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.
Does not fit inclusion criteria; no freckling or photosensitivity.
Created: 27 Jan 2016, 2:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Non-photosensitive trichothiodystrophy 4
28/Nov/2016: Panel combined and revised due to external and internal review.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MPLKIP was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for MPLKIP were set to Non-photosensitive trichothiodystrophy 4
MPLKIP was created by ellenmcdonagh
MPLKIP was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: UKGTN