8p11.2 Deletion Syndrome

Table of contents:

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

Description

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

Genes related to 8p11.2 Deletion Syndrome

ANK1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to 8p11.2 Deletion Syndrome

Intellectual disability
Seizures
Global developmental delay
Short stature
Microcephaly
Growth delay
Hypertelorism
Nystagmus
Micrognathia
Cryptorchidism

And another 26 symptoms. If you need more information about this disease we can help you.

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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

8p11.2 Deletion Syndrome Is also known as del(8)(p11.2), monosomy 8p11.2.

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.

8p11.2 Deletion Syndrome 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 %
ANK1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ANK1 Specificity 100 % Genes 100 %
ANK1 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ANK1 Specificity 100 % 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 %
Hereditary Hemolytic Anemia Panel, Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7, NT5C3A, ADA, CYB5R3, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GCLC, GPI, GSS , (...) View the complete list with 6 more genes Panel complete gene list SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7, NT5C3A, ADA, CYB5R3, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GCLC, GPI, GSS, ANK1, HK1, PFKL, PFKM, PGK1, PKLR Specificity 4 % Genes 100 %
ANK1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ANK1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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