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  3. POLH
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Childhood solid tumours

Gene: POLH

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

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that Xeroderma pigmentosum associated genes associated with cancer will be included in this panel and that there is enough evidence to rate this gene green.
Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27

Publications

Created: 2 Aug 2019, 11:03 a.m.
Last Modified: 2 Aug 2019, 11:03 a.m.
Panel version: 1.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, variant type, OMIM:278750
OMIM
603968
Clinvar variants
Variants in POLH
Penetrance
None
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

2 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: POLH was added gene: POLH was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLH were set to 24877075; 11773631; 26884178; 30511002 Phenotypes for gene: POLH were set to Xeroderma pigmentosum, variant type, 278750