MED17 gene related symptoms and diseases
All the information presented here about the MED17 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MED17 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Failure to thrive | Very Common - Between 80% and 100% cases |
| Spasticity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MED17 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Feeding difficulties
- Hyperreflexia
- Dysphagia
- Cerebellar atrophy
- Hypertonia
- EEG abnormality
- Hypsarrhythmia
- Postnatal microcephaly
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MED17 gene
Here you will find a list of rare diseases related to the MED17. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INFANTILE CEREBRAL AND CEREBELLAR ATROPHY WITH POSTNATAL PROGRESSIVE MICROCEPHALY
Description
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.
Most common symptoms of INFANTILE CEREBRAL AND CEREBELLAR ATROPHY WITH POSTNATAL PROGRESSIVE MICROCEPHALY
- Seizures
- Global developmental delay
- Microcephaly
- Failure to thrive
- Spasticity
More info about INFANTILE CEREBRAL AND CEREBELLAR ATROPHY WITH POSTNATAL PROGRESSIVE MICROCEPHALY
Search interest in MED17
Potential gene panels for MED17 gene
Autosomal Recessive Primary Microcephaly Tier 2 panel Panel
United States.
By Genetic Services Laboratory University of Chicago Autosomal Recessive Primary Microcephaly Tier 2 panel that also includes the following genes: STIL SLC25A19 ZNF335 ARFGEF2 STAMBP CENPJ NDE1 CDK6 CENPE CENPF
More info about this panel United States.
Microcephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
More info about this panel United States.
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel United States.
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel
Portugal.
By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Portugal.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
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.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
Single gene testing MED17 Panel
Germany.
By CeGaT GmbH
This panel specifically test the MED17 gene.
More info about this panel Germany.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Microcephaly NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1
More info about this panel United States.
Rett-Angelman Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Rett-Angelman Syndrome NGS Panel that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 CAV1 ARX
More info about this panel United States.
MED17 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MED17 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HJV MCEE ATM