Retinitis Pigmentosa And Erythrocytic Microcytosis; Rpem

Clinical Features

Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa And Erythrocytic Microcytosis; Rpem

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia
  • Myopia
  • Fever
  • Edema
  • Depressivity
  • Arthritis

And another 17 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Retinitis Pigmentosa And Erythrocytic Microcytosis; Rpem Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
TRNT1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TRNT1
Specificity
100 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay.

By Centogene AG - the Rare Disease Company (Germany).

TRNT1
Specificity
100 %
Genes
100 %
Congenital sideroblastic anemia panel.

By Centogene AG - the Rare Disease Company (Germany).

SLC19A2, PUS1, TRNT1, GLRX5, YARS2, SLC25A38, ALAS2, ABCB7
Specificity
13 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Hereditary Sideroblastic Anemia.

By Asper Biogene Asper Biogene LLC (Estonia).

SLC19A2, PUS1, TRNT1, GLRX5, YARS2, SLC25A38, ALAS2, ABCB7, HSPA9
Specificity
12 %
Genes
100 %

We have 11 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5 EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR; DEDSSH SPLIT-HAND/FOOT MALFORMATION 6; SHFM6

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more