Mitochondrial disease
Gene: HLCS

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

2 reviews

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

HCS localises to nucleus. Clinical presentation is with metabolic acidosis, which could potentially mimic a mitochondrial disorder.
Sources: Expert list
Created: 11 Mar 2020, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Holocarboxylase synthetase deficiency, MIM# 253270

Created: 11 Mar 2020, 8:10 a.m.

Panel version: 0.236

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Holocarboxylase synthetase deficiency, MIM# 253270

Tags

treatable

OMIM

609018

Clinvar variants

Variants in HLCS

Penetrance

None

Panels with this gene