HMGCL
HGNC:5005 · SaudiVarKB evidence summary derived from retained literature mentions.
4Gene mentions
4Publications
2Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in HMGCL publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
Linked variants
Variants normalized to HMGCL| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.122G>A | c.122G>A | 1 | 1 |
| p.Arg41Gln | p.Arg41Gln | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Saudi Arabia · Riyadh | — | 50 | 1 |
| Saudi Arabia | — | 93 | 1 |
| Saudi Arabia | — | 62 | 1 |
Supporting publications
4 records- 2022HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.Frontiers in genetics1 mentions
- 2021Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center.Journal of pediatric genetics1 mentions
- 2007Molecular genetics of HMG-CoA lyase deficiency.Molecular genetics and metabolism1 mentions
- 2006Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.BMC medical genetics1 mentions