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Epileptic encephalopathy

Gene: HMGCL

Green List (high evidence)

HMGCL (3-hydroxymethyl-3-methylglutaryl-CoA lyase)
EnsemblGeneIds (GRCh38): ENSG00000117305
EnsemblGeneIds (GRCh37): ENSG00000117305
OMIM: 613898, Gene2Phenotype
HMGCL is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Added from Intellectual disability panel update as this gene is also relevant to the Epileptic encephalopathy panel. This is a Confirmed disease gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) for 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency. Grunert (2017) PMID: 28583327 reviewed the clinical presentation and outcome in a series of 37 patients with HMGCLD. 10 had no further metabolic decompensations after diagnosis, and 22 had at least one more metabolic crisis, most often associated with infections, especially gastroenteritis or respiratory tract infections. Half of the patients had normal cognitive development, and the remainder had psychomotor deficits of variable severity.
Created: 18 Dec 2017, 4:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HMG-CoA lyase deficiency, 246450; 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency; HMGCLD

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • HMG-CoA lyase deficiency, 246450
  • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  • HMGCLD
OMIM
613898
Clinvar variants
Variants in HMGCL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

HMGCL was added to Epileptic encephalopathy panel. Sources: Other

18 Dec 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

HMGCL was created by Louise Daugherty