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Inborn errors of metabolism

Gene: HLCS

Green List (high evidence)

HLCS (holocarboxylase synthetase)
EnsemblGeneIds (GRCh38): ENSG00000159267
EnsemblGeneIds (GRCh37): ENSG00000159267
OMIM: 609018, Gene2Phenotype
HLCS is in 11 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 12:32 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for Holocarboxylase synthetase deficiency.
Created: 2 Mar 2016, 12:32 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Holocarboxylase synthetase deficiency
  • Holocarboxylase synthetase deficiency, 253270
  • lactic acidosis with seizures and eczema, immune deficiency
  • Holocarboxylase synthetase deficiency (Disorders of biotin metabolism)
OMIM
609018
Clinvar variants
Variants in HLCS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HLCS. Source London North GLH was added to HLCS.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Holocarboxylase synthetase deficiency, 253270; Holocarboxylase synthetase deficiency; lactic acidosis with seizures and eczema, immune deficiency; Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) for gene: HLCS Publications for gene HLCS were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HLCS was added gene: HLCS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270