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This Panel is marked as Internal

Newborns main panel
Gene: HMGCS2

HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000134240
EnsemblGeneIds (GRCh37): ENSG00000134240
OMIM: 600234, Gene2Phenotype
HMGCS2 is in 9 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

HMGCS2 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

HMG-CoA synthase-2 deficiency

OMIM

Clinvar variants

Variants in HMGCS2

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: HMGCS2 were changed from HMG-CoA synthase-2 deficiency; HMG-CoA synthase-2 deficiency to HMG-CoA synthase-2 deficiency

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes HMG-CoA synthase-2 deficiency for gene: HMGCS2

14 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: HMGCS2 were changed from HMG-CoAsynthase-2deficiency; HMG-CoA synthase-2 deficiency to HMG-CoA synthase-2 deficiency

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HMGCS2. Added phenotypes HMG-CoAsynthase-2deficiency for gene: HMGCS2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: HMGCS2 were changed from HMG-CoAsynthase-2deficiency to HMG-CoA synthase-2 deficiency

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HMGCS2. Added phenotypes HMG-CoAsynthase-2deficiency for gene: HMGCS2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HMGCS2. Added phenotypes HMG-CoAsynthase-2deficiency for gene: HMGCS2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes HMG-CoAsynthase-2deficiency for gene: HMGCS2

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: HMGCS2 was added gene: HMGCS2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal