White matter disorders and cerebral calcification - narrow panel
Gene: POLH
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
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
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
Tag Q2_21_rating was removed from gene: POLH.
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)
Tag Q2_21_rating tag was added to gene: POLH.
Gene: polh has been classified as Green List (High Evidence).
Phenotypes for gene: POLH were changed from Xeroderma pigmentosum, variant type, 278750 to Xeroderma pigmentosum, variant type, OMIM:278750
Checked against super panel made up of the panel constituents. Ready to promote to version 1
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