White matter disorders and cerebral calcification - narrow panel
Gene: POLHEnsemblGeneIds (GRCh38): ENSG00000170734
EnsemblGeneIds (GRCh37): ENSG00000170734
OMIM: 603968, Gene2Phenotype
POLH is in 7 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:57 p.m.
Panel Version: 2.9
Arina Puzriakova (Genomics England Curator)
Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel update. Literature search did not reveal any evidence of involvement in white matter disease or intracranial calcification.Created: 26 May 2021, 4:08 p.m. | Last Modified: 26 May 2021, 4:09 p.m.
Panel Version: 1.123
Zornitza Stark (Australian Genomics)
Cannot find reports of leukodystrophy associated with this particular gene.Created: 16 Sep 2020, 4:15 a.m. | Last Modified: 16 Sep 2020, 4:15 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, variant type 278750
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Xeroderma pigmentosum, variant type, OMIM:278750
- OMIM
- 603968
- Clinvar variants
- Variants in POLH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating was removed from gene: POLH.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to POLH. Source Expert Review Red was added to POLH. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: POLH.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: polh has been classified as Green List (High Evidence).
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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: POLH was added gene: POLH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLH were set to 23755135; 23651273; 24260050; 27004399; 25256075; 27664908; 24877075; 24130121; 25128761 Phenotypes for gene: POLH were set to Xeroderma pigmentosum, variant type, 278750