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This Panel is marked as Internal

Newborns main panel
Gene: POLH

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

POLH curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Xeroderma pigmentosum, variant type

OMIM

Clinvar variants

Variants in POLH

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Xeroderma pigmentosum, variant type for gene: POLH

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to POLH. Added phenotypes Xeroderma pigmentosum, variant type for gene: POLH Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to POLH. Added phenotypes Xeroderma pigmentosum, variant type for gene: POLH Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to POLH. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Xeroderma pigmentosum, variant type for gene: POLH

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: POLH was added gene: POLH was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal