GCLC gene related symptoms and diseases
All the information presented here about the GCLC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GCLC gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Uncommon - Between 30% and 50% cases |
| Myopathy | Uncommon - Between 30% and 50% cases |
| Abnormality of metabolism/homeostasis | Uncommon - Between 30% and 50% cases |
| Hemolytic anemia | Uncommon - Between 30% and 50% cases |
| Polyneuropathy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GCLC gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Spinocerebellar tract degeneration
- Nonspherocytic hemolytic anemia
- Glutathione synthetase deficiency
- Late-onset spinocerebellar degeneration
Rare diseases associated to GCLC gene
Here you will find a list of rare diseases related to the GCLC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLUTAMATE-CYSTEINE LIGASE DEFICIENCY
Alternate names
GLUTAMATE-CYSTEINE LIGASE DEFICIENCY Is also known as gamma-glutamylcysteine synthetase deficiency
Description
Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.
Most common symptoms of GLUTAMATE-CYSTEINE LIGASE DEFICIENCY
- Anemia
- Myopathy
- Abnormality of metabolism/homeostasis
- Hemolytic anemia
- Polyneuropathy
More info about GLUTAMATE-CYSTEINE LIGASE DEFICIENCY
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
Search interest in GCLC
Potential gene panels for GCLC gene
Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panel United States.
Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8
More info about this panel United States.
GCLC Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the GCLC gene.
More info about this panel United States.
GCLC Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the GCLC gene.
More info about this panel United States.
Hemolytic Anemia Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2
More info about this panel United States.
Red Blood Cell Enzymopathies Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Enzymopathies Deletion/Duplication Panel that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Hereditary Hemolytic Anemia Panel, Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemolytic Anemia Panel, Sequencing that also includes the following genes: SLCO1B1 SLCO1B3 SPTA1 SPTB TPI1 UGT1A1 UGT1A6 UGT1A7 NT5C3A ADA
More info about this panel United States.
RBC Enzymopathies (NGS panel of 14 genes) Panel
Portugal.
By CGC Genetics RBC Enzymopathies (NGS panel of 14 genes) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panel Portugal.
Gamma-glutamylcysteine synthetase deficiency (sequence analysis of GCLC gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GCLC gene.
More info about this panel Portugal.
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8
More info about this panel Spain.
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
United States.
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59
More info about this panel United States.
GCLC Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GCLC gene.
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ZNF711 RASA2 CD28 MAP3K20-AS1 CYBA AUTS2 STUB1