Blood Group, Gerbich System; Ge

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Blood Group, Gerbich System; Ge

GYPC

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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 Panel complete gene list RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2, G6PD, ALDOA, GATA1, GCLC, GPI, GPX1, GSS, GYPC, ANK1, HK1, KCNN4, KLF1, KIF23, PFKM, PGK1, PKLR 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 Panel complete gene list RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1, GCLC, GPI, GPX1, GSS, GYPC, ANK1, HK1, KLF1, KIF23, PFKM, PGK1, PKLR 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 Panel complete gene list RHAG, BPGM, SLC2A1, SPTA1, SPTB, TPI1, UGT1A1, XK, ABCG5, ABCG8, NT5C3A, ADA, CYB5R3, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GCLC, GPI, GPX1, GSS, ABCB6, GYPC, ANK1, HK1, KCNN4, PFKM, PGK1, PKLR Specificity 4 % Genes 100 %

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Sources and references

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