Ketotic hypoglycaemia

Gene: HLCS

Green List (high evidence)

HLCS (holocarboxylase synthetase)
EnsemblGeneIds (GRCh38): ENSG00000159267
EnsemblGeneIds (GRCh37): ENSG00000159267
OMIM: 609018, Gene2Phenotype
HLCS is in 12 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green from amber due to expert review. It is a confirmed DD gene for Holocarboxylase synthetase deficiency and has multiple cases with different variants on OMIM.
Created: 7 Jun 2016, 2:53 p.m.
Comment on list classification: Gene added by reviewer. It is a confirmed DD gene for holocarboxylase synthetase deficiency.
Created: 6 Apr 2016, 10:34 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • lactic acidosis with seizures and eczema, immune deficiency
  • Holocarboxylase synthetase deficiency
OMIM
609018
Clinvar variants
Variants in HLCS
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

7 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HLCS were set to lactic acidosis with seizures and eczema, immune deficiency; Holocarboxylase synthetase deficiency

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 Apr 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HLCS was changed to BIALLELIC, autosomal or pseudoautosomal

6 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

HLCS was added to Ketotic hypoglycaemiapanel. Sources: Literature