Hereditary Pigmentary Disorders

Gene: POLH

Green List (high evidence)

POLH (DNA polymerase eta)
EnsemblGeneIds (GRCh38): ENSG00000170734
EnsemblGeneIds (GRCh37): ENSG00000170734
OMIM: 603968, Gene2Phenotype
POLH is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.
Created: 23 Apr 2021, 8:30 a.m. | Last Modified: 23 Apr 2021, 8:30 a.m.
Panel Version: 0.7291

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, variant type, MIM# 278750; MONDO:0010214

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum variant type MONDO:0010214
OMIM
603968
Clinvar variants
Variants in POLH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: polh has been classified as Green List (High Evidence).

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: polh has been classified as Green List (High Evidence).

30 May 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: POLH was added gene: POLH was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLH were set to 10385124; 10398605 Phenotypes for gene: POLH were set to Xeroderma pigmentosum variant type MONDO:0010214