Hyperammonaemia
Gene: HMGCL
HMGCL (3-hydroxymethyl-3-methylglutaryl-CoA lyase)
EnsemblGeneIds (GRCh38): ENSG00000117305
EnsemblGeneIds (GRCh37): ENSG00000117305
OMIM: 613898, Gene2Phenotype
HMGCL is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000117305
EnsemblGeneIds (GRCh37): ENSG00000117305
OMIM: 613898, Gene2Phenotype
HMGCL is in 11 panels
3 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least six variants reported as homozygotes in three families and compound heterozygotes in three patientsCreated: 18 Aug 2016, 11:21 a.m.
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- OMIM
- 613898
- Clinvar variants
- Variants in HMGCL
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
22 Nov 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
18 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 Aug 2016, Gel status: 4
Upload gene information
Sarah Leigh (Genomics England Curator)HMGCL was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
18 Aug 2016, Gel status: 1
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for HMGCL was changed to BIALLELIC, autosomal or pseudoautosomal
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)HMGCL was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory