Adult onset leukodystrophy
Gene: COL4A2Added the Q4_21_rating so it is clear it is the rating of this gene that is being assessed.Created: 6 Oct 2022, 2:08 p.m. | Last Modified: 6 Oct 2022, 2:08 p.m.
Panel Version: 1.47
As the recommendation is to demote COL4A2 from Green to Red on this panel, the to_be_confirmed_NHSE tag has been added, as further NHSE review is required.Created: 15 Mar 2022, 6:06 p.m. | Last Modified: 15 Mar 2022, 6:06 p.m.
Panel Version: 1.40
Cannot find specific reports linking variants in this gene with leukodystrophy (unlike the association between COL4A1 and leukodystrophy). Brain abnormalities described typically include porencephaly, schizencephaly, polymicrogyria, pachygyria, and subcortical and subependymal nodular heterotopia.Created: 21 Jun 2020, 6:15 a.m. | Last Modified: 21 Jun 2020, 6:15 a.m.
Panel Version: 1.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brain small vessel disease 2, MIM# 614483
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brain small vessel disease 2, 614483
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: COL4A2. Tag Q4_21_rating was removed from gene: COL4A2. Tag Q4_21_phenotype was removed from gene: COL4A2.
Tag Q4_21_rating tag was added to gene: COL4A2.
Tag to_be_confirmed_NHSE tag was added to gene: COL4A2.
Tag Q4_21_expert_review tag was added to gene: COL4A2. Tag Q4_21_phenotype tag was added to gene: COL4A2.
Phenotypes for gene: COL4A2 were changed from Brain small vessel disease 2, 614483 to Brain small vessel disease 2, OMIM:614483
Mode of inheritance for gene COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Brain small vessel disease 2, 614483 for gene: COL4A2
Publications for gene COL4A2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to COL4A2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to COL4A2.
gene: COL4A2 was added gene: COL4A2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: COL4A2 was set to