EPB41L1 gene related symptoms and diseases
All the information presented here about the EPB41L1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EPB41L1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
Rare diseases associated to EPB41L1 gene
Here you will find a list of rare diseases related to the EPB41L1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11
Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11
- Intellectual disability
- Seizures
- Generalized hypotonia
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11
SOURCES: OMIM
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY
Search interest in EPB41L1
Potential gene panels for EPB41L1 gene
Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panel United States.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
EPB41L1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EPB41L1 gene.
More info about this panel United States.
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel
Spain.
By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP
More info about this panel Spain.
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SMARCA4 SMARCB1 ARID1A SYNGAP1 TRIO ZBTB18 CACNG2 DEAF1 SETBP1 ADNP
More info about this panel Spain.
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