Blood Group, Gerbich System; Ge
Description
The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see {611162}). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by Walker and Reid, 2010).
Clinical Features
Phenotypes and symptoms related to Blood Group, Gerbich System; Ge
- Elliptocytosis
- Blood group antigen abnormality
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Blood Group, Gerbich System; Ge Is also known as gerbich blood group system.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Blood Group, Gerbich System; Ge Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RHAG, SLC2A1, SPTA1, SPTB, XK, ATP11C, ABCG5, ABCG8, COL4A1, PIEZO1, EPB41, EPB42, GYPC, ANK1, KCNN4
Specificity
7 %
Genes
100 % |
Hemolytic Anemia Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2 , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
Hemolytic Anemia Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1 , (...)
View the complete list with 12 more genes
Specificity
4 %
Genes
100 % |
Red Blood Cell Membrane Disorders Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RHAG, SLC2A1, SPTA1, SPTB, XK, ABCG5, ABCG8, PIEZO1, EPB41, EPB42, GYPC, ANK1
Specificity
9 %
Genes
100 % |
GYPC Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
GYPC
Specificity
100 %
Genes
100 % |
GYPC Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
GYPC
Specificity
100 %
Genes
100 % |
Hereditary elliptocytosis (sequence analysis of GYPC gene).
By CGC Genetics (Portugal).
GYPC
Specificity
100 %
Genes
100 % |
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies.
By BLOODGENETICS BLOODGENETICS (Spain).
RHAG, BPGM, SLC2A1, SPTA1, SPTB, TPI1, UGT1A1, XK, ABCG5, ABCG8, NT5C3A, ADA, CYB5R3, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GCLC , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
You can get up to 3 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPONDYLOOCULAR SYNDROME; SOS PYCNODYSOSTOSIS KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 AORTIC VALVE DISEASE 1; AOVD1 PSEUDOACHONDROPLASIA; PSACH SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA; SPAHGC GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1