1. Panels
  2. Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
  3. POLH
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Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Gene: POLH

Green List (high evidence)
POLH (DNA polymerase eta)
EnsemblGeneIds (GRCh38): ENSG00000170734
EnsemblGeneIds (GRCh37): ENSG00000170734
OMIM: 603968, Gene2Phenotype
POLH is in 7 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

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.
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.
Created: 24 Nov 2016, 4:46 p.m.

Panel version: 0.23

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Variant Xeroderma Pigmentosa

Created: 27 Jan 2016, 2:11 p.m.

Panel version: Imported from "XP-like disorders" panel version 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, variant type, OMIM:278750
Tags
deletions
OMIM
603968
Clinvar variants
Variants in POLH
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 May 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POLH were changed from Xeroderma pigmentosum, variant type, 278750 to Xeroderma pigmentosum, variant type, OMIM:278750

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.

24 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: 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: 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: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for POLH were set to 27664908; 27004399; 25256075; 25128761; 24877075; 24260050; 24130121; 23755135; 23651273

24 Nov 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for POLH were set to 27664908; 27004399; 25256075; 25128761; 24877075; 24260050; 24130121;23755135

24 Nov 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for POLH were set to 27664908; 27004399; 25256075; 25128761; 24877075; 24260050; 24130121

24 Nov 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for POLH were set to 27664908;27004399;25256075; 25128761;24877075;24260050

27 Oct 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

POLH was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

27 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POLH was created by ellenmcdonagh