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  3. POLH
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Chromosome Breakage Disorders

Gene: POLH

Green List (high evidence)
POLH (DNA polymerase eta)
EnsemblGeneIds (GRCh38): ENSG00000170734
EnsemblGeneIds (GRCh37): ENSG00000170734
OMIM: 603968, Gene2Phenotype
POLH is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.
Created: 23 Apr 2021, 8:27 a.m. | Last Modified: 23 Apr 2021, 8:27 a.m.
Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 23 Apr 2021, 8:27 a.m.
Last Modified: 23 Apr 2021, 8:27 a.m.
Panel version: 0.138

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, variant type, MIM# 278750
  • MONDO:0010214
OMIM
603968
Clinvar variants
Variants in POLH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POLH were changed from to Xeroderma pigmentosum, variant type, MIM# 278750; MONDO:0010214

23 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLH were set to

23 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POLH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLH was added gene: POLH was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLH was set to Unknown