Genetic Epilepsy
Gene: HLCS

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Holocarboxylase synthetase deficiency, a biotin-responsive multiple carboxylase deficiency (MCD), is characterised by metabolic acidosis, lethargy, hypotonia, convulsions, and dermatitis. Most individuals present in the newborn or early infantile period, but some become symptomatic in the later infantile period. Well established gene-disease association.
Created: 1 Sep 2020, 4:52 a.m. | Last Modified: 1 Sep 2020, 4:52 a.m.

Panel Version: 0.4073

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Holocarboxylase synthetase deficiency, MIM# 253270

Created: 1 Sep 2020, 4:52 a.m.
Last Modified: 1 Sep 2020, 4:52 a.m.
Panel version: Imported from Mendeliome panel version 0.4073

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Loss of function - transfected fibroblasts show reduced enzyme activity (PMID: 10190325)
Created: 1 Sep 2020, 2:49 a.m. | Last Modified: 1 Sep 2020, 2:49 a.m.

Panel Version: 0.4059

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Holocarboxylase synthetase deficiency, 253270

Publications

PMID: 10190325

Created: 1 Sep 2020, 2:49 a.m.
Last Modified: 1 Sep 2020, 2:49 a.m.
Panel version: Imported from Mendeliome panel version 0.4059

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Holocarboxylase synthetase deficiency, MIM# 253270

Tags

treatable

OMIM

609018

Clinvar variants

Variants in HLCS

Penetrance

None

Publications

10190325

Panels with this gene