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  3. HLCS
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Hyperammonaemia

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

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

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
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Holocarboxylase synthetase deficiency 253270
Tags
treatable
OMIM
609018
Clinvar variants
Variants in HLCS
Penetrance
None
Panels with this gene

History Filter Activity

29 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: HLCS.

29 Jan 2021, 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 Hyperammonaemia. Sources: Genomics England PanelApp,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