1. Panels
  2. BabyScreen+ newborn screening
  3. HMGCS2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: HMGCS2

Amber List (moderate evidence)
HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000134240
EnsemblGeneIds (GRCh37): ENSG00000134240
OMIM: 600234, Gene2Phenotype
HMGCS2 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

For review regarding penetrance.
Created: 5 Mar 2023, 5:40 a.m. | Last Modified: 5 Mar 2023, 5:40 a.m.
Panel Version: 0.1889

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HMG-CoA synthase-2 deficiency MIM#605911

Created: 5 Mar 2023, 5:40 a.m.
Last Modified: 5 Mar 2023, 5:40 a.m.
Panel version: 0.1889

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Metabolic disorder; patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting. Recover completely between illnesses, do develop fatty liver.
?incomplete penetrance or variable age of onset
On GUARDIAN and Rx Genes
Rx IV glucose during acute episodes, avoid prolonged fasting
Metabolic parameters are normal in between episodes, so no ability to do a confirmatory biochemical test.
Pros: readily treatable if child has an episode Cons: unncessary worry as child may never have episode
Super rare ?30 cases
Discuss with JC?
Sources: Expert list
Created: 27 Feb 2023, 1:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HMG-CoA synthase-2 deficiency MIM#605911

Publications

Created: 27 Feb 2023, 1:27 a.m.

Panel version: 0.1872

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • HMG-CoA synthase-2 deficiency MIM#605911
Tags
for review treatable metabolic
OMIM
600234
Clinvar variants
Variants in HMGCS2
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

5 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hmgcs2 has been classified as Amber List (Moderate Evidence).

5 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hmgcs2 has been classified as Amber List (Moderate Evidence).

5 Mar 2023, Gel status: 0

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: HMGCS2. Tag treatable tag was added to gene: HMGCS2. Tag metabolic tag was added to gene: HMGCS2.

27 Feb 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Lilian Downie (Victorian Clinical Genetics Services)

gene: HMGCS2 was added gene: HMGCS2 was added to gNBS. Sources: Expert list Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS2 were set to PMID: 32259399, 32470406 Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency MIM#605911 Penetrance for gene: HMGCS2 were set to Incomplete Review for gene: HMGCS2 was set to AMBER