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Structural eye disease
Gene: POLH

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

no evidence of involvement in eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
XERODERMA PIGMENTOSUM, VARIANT TYPE; 278750

Mode of pathogenicity
Other - please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). no evidence of involvement in eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750

Mode of pathogenicity
Other - please provide details in the comments

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Xeroderma pigmentosum, variant type, OMIM:278750

OMIM

603968

Clinvar variants

Variants in POLH

Penetrance

None

Panels with this gene

History Filter Activity

26 May 2021, Gel status: 1

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

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to POLH. Mode of inheritance for gene POLH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750 for gene: POLH

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: POLH was added gene: POLH was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: POLH was set to

Structural eye disease Gene: POLH