Adult onset leukodystrophy
Gene: POLR1CEnsemblGeneIds (GRCh38): ENSG00000171453
EnsemblGeneIds (GRCh37): ENSG00000171453
OMIM: 610060, Gene2Phenotype
POLR1C is in 11 panels
8 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.Created: 4 May 2024, 5:32 p.m. | Last Modified: 4 May 2024, 5:49 p.m.
Panel Version: 4.3
Eleanor Williams (Genomics England Curator)
Adding 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
Sarah Leigh (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
David Lynch (UCL Institute of Neurology)
Catherine Snow (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 11
Louise Daugherty (Genomics England Curator)
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
Ian Berry (Leeds Genetics Laboratory)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Yorkshire and North East GLH
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 11
- OMIM
- 610060
- Clinvar variants
- Variants in POLR1C
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE was removed from gene: POLR1C.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Amber was added to POLR1C. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_21_expert_review was removed from gene: POLR1C. Tag Q4_21_rating was removed from gene: POLR1C.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_rating tag was added to gene: POLR1C.
Added Tag
Sarah Leigh (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: POLR1C.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_expert_review tag was added to gene: POLR1C.
Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)Mode of inheritance for gene POLR1C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukodystrophy, hypomyelinating, 11 for gene: POLR1C
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene POLR1C were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to POLR1C. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to POLR1C.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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