Adult onset leukodystrophy
Gene: HMGCL
As HMG-CoA lyase deficiency (OMIM:246450) has an onset in infancy or childhood, it may be inappropriate to have HMGCL as a green gene on this panel - Adult onset leukodystrophy. PMID: 28583327 reports 37 cases of HMG-CoA lyase deficiency where the first symptoms are reported from birth to 4 years of age.Created: 12 Oct 2023, 3:32 p.m. | Last Modified: 12 Oct 2023, 3:32 p.m.
Panel Version: 3.20
Onset is typically in infancy.Created: 21 Jun 2020, 6:27 a.m. | Last Modified: 21 Jun 2020, 6:27 a.m.
Panel Version: 1.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, MIM# 246450
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, 246450
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_23_demote_amber tag was added to gene: HMGCL. Tag Q4_23_expert_review tag was added to gene: HMGCL.
Publications for gene: HMGCL were set to 27159321; 25527826; 28334938; 20301621; 24357685
Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, 246450 to HMG-CoA lyase deficiency, OMIM:246450; 3-hydroxy-3-methylglutaric aciduria, MONDO:0009520
Mode of inheritance for gene HMGCL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes HMG-CoA lyase deficiency, 246450 for gene: HMGCL
Publications for gene HMGCL were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to HMGCL. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to HMGCL.
gene: HMGCL was added gene: HMGCL was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: HMGCL was set to