Adult onset leukodystrophy
Gene: POLR1CAdding the Q4_21_rating tag to make it clear that the rating of this gene is being assessed.Created: 6 Oct 2022, 2:10 p.m. | Last Modified: 6 Oct 2022, 2:10 p.m.
Panel Version: 1.47
As the recommendation is to demote POLR1C from Green to Amber on this panel, the to_be_confirmed_NHSE tag has been added, as further NHSE review is required.Created: 15 Mar 2022, 6:10 p.m. | Last Modified: 15 Mar 2022, 6:10 p.m.
Panel Version: 1.40
Generally paediatric onset disorder. I can only find one case report in a supplement of adult-onset.Created: 21 Jun 2020, 6:37 a.m. | Last Modified: 21 Jun 2020, 6:37 a.m.
Panel Version: 1.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 11, MIM# 616494
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 11
Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 4 Jul 2019, 4:32 p.m.
Panel Version: 0.10
Included all genes listed in clinical cases in Lynch et al 2015 PMID:28334938 and Ayrignac et al. 2015 PMID: 25527826. Included all genes with clear adult onset listed in Vanderver 2017 PMID:27159321 and Ahmed et al. 2017 PMID:24357685. A small number of genes from these resources were omitted, particularly those with limited or single case reports referenced in Ahmed et al, those with a metabolic basis (that could be determined by standard metabolic assays), and recessive diseases where the likelihood of encountering incidental carrier status is far more likely than finding a diagnosis e.g. Cockayne syndrome. Due to variable expressivity and potential later onset of phenotype in hypomorphic cases, peroxisomal biogenesis disorders OMIM phenotypic Series PS214100 and GeneReviews PMID:20301621 included.Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q4_21_expert_review was removed from gene: POLR1C. Tag Q4_21_rating was removed from gene: POLR1C.
Tag Q4_21_rating tag was added to gene: POLR1C.
Tag to_be_confirmed_NHSE tag was added to gene: POLR1C.
Tag Q4_21_expert_review tag was added to gene: POLR1C.
Mode of inheritance for gene POLR1C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukodystrophy, hypomyelinating, 11 for gene: POLR1C
Publications for gene POLR1C were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to POLR1C. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to POLR1C.
gene: POLR1C was added gene: POLR1C was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: POLR1C was set to