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Fetal anomalies

Gene: HMGCS2

Red List (low evidence)

HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000134240
EnsemblGeneIds (GRCh37): ENSG00000134240
OMIM: 600234, Gene2Phenotype
HMGCS2 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HMGCS2 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY
OMIM
600234
Clinvar variants
Variants in HMGCS2
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to HMGCS2. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HMGCS2 was added gene: HMGCS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY