Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
Gene: POLHComment on list classification: Green expert review, multiple families/cases reported in the literature (see publications for recent reports).Created: 24 Nov 2016, 4:46 p.m.
Comment on list classification: Green expert review, multiple families/cases reported in the literature (see publications for recent reports).Created: 24 Nov 2016, 4:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Variant Xeroderma Pigmentosa
Phenotypes for gene: POLH were changed from Xeroderma pigmentosum, variant type, 278750 to Xeroderma pigmentosum, variant type, OMIM:278750
28/Nov/2016: Panel combined and revised due to external and internal review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for POLH were set to 27664908; 27004399; 25256075; 25128761; 24877075; 24260050; 24130121; 23755135; 23651273
Publications for POLH were set to 27664908; 27004399; 25256075; 25128761; 24877075; 24260050; 24130121;23755135
Publications for POLH were set to 27664908; 27004399; 25256075; 25128761; 24877075; 24260050; 24130121
Publications for POLH were set to 27664908;27004399;25256075; 25128761;24877075;24260050
POLH was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
POLH was created by ellenmcdonagh