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Prepair 1000+

Gene: HLCS

Green List (high evidence)

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

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

From babyscreen+:
Well established gene-disease association.

Typically presents in newborn period/infancy with metabolic acidosis, lethargy, hypotonia, convulsions, and dermatitis

Treatment: biotin

Non-genetic confirmatory testing: urine organic acids
Created: 20 Sep 2024, 6:30 a.m. | Last Modified: 20 Sep 2024, 6:30 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Holocarboxylase synthetase deficiency MIM#253270

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Holocarboxylase synthetase deficiency, 253270 (3)
OMIM
609018
Clinvar variants
Variants in HLCS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: hlcs has been classified as Green List (High Evidence).

4 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: HLCS were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Holocarboxylase synthetase deficiency, 253270 (3) for gene: HLCS

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HLCS was added gene: HLCS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)