Adult onset leukodystrophy
Gene: HMGCLEnsemblGeneIds (GRCh38): ENSG00000117305
EnsemblGeneIds (GRCh37): ENSG00000117305
OMIM: 613898, Gene2Phenotype
HMGCL is in 11 panels
7 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, 5:43 p.m.
Panel Version: 4.3
Sarah Leigh (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
David Lynch (UCL Institute of Neurology)
Catherine Snow (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, 246450
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
-
- HMG-CoA lyase deficiency, OMIM:246450
- 3-hydroxy-3-methylglutaric aciduria, MONDO:0009520
- OMIM
- 613898
- Clinvar variants
- Variants in HMGCL
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Early onset or syndromic epilepsy
- Adult onset leukodystrophy
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_demote_amber was removed from gene: HMGCL. Tag Q4_23_expert_review was removed from gene: HMGCL.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Amber was added to HMGCL. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_23_demote_amber tag was added to gene: HMGCL. Tag Q4_23_expert_review tag was added to gene: HMGCL.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: HMGCL were set to 27159321; 25527826; 28334938; 20301621; 24357685
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)Mode of inheritance for gene HMGCL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes HMG-CoA lyase deficiency, 246450 for gene: HMGCL
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene HMGCL 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 HMGCL. 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 HMGCL.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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