RTTN gene related symptoms and diseases
All the information presented here about the RTTN 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 RTTN gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Unilateral renal agenesis | Uncommon - Between 30% and 50% cases |
| Poor speech | Uncommon - Between 30% and 50% cases |
| Polymicrogyria | Uncommon - Between 30% and 50% cases |
| Sloping forehead | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with RTTN gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Tetraparesis
- Pachygyria
- Heterotopia
- Spastic tetraparesis
- Lissencephaly
- Mild short stature
- Craniosynostosis
- Multiple joint contractures
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RTTN gene
Here you will find a list of rare diseases related to the RTTN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO RTTN DEFICIENCY
Description
Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.
More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO RTTN DEFICIENCY
SOURCES: ORPHANET
BILATERAL GENERALIZED POLYMICROGYRIA
Alternate names
BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys, polymicrogyria with seizures
Most common symptoms of BILATERAL GENERALIZED POLYMICROGYRIA
- Intellectual disability
- Seizures
- Short stature
- Hearing impairment
- Microcephaly
More info about BILATERAL GENERALIZED POLYMICROGYRIA
Search interest in RTTN
Potential gene panels for RTTN gene
Polymicrogyria Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Polymicrogyria Deletion/Duplication Panel that also includes the following genes: TUBA8 RAB18 CCND2 TBC1D20 RAB3GAP1 RAB3GAP2 NDE1 RTTN TUBA1A TUBB3
More info about this panel United States.
Cerebral Cortical Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebral Cortical Deletion/Duplication Panel that also includes the following genes: TUBA8 VLDLR ACTB RAB18 ACTG1 RAB3GAP1 RAB3GAP2 FKRP ARX RTTN
More info about this panel United States.
Cerebral Cortical Malformation Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformation Sequencing Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panel United States.
Polymicrogyria Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Polymicrogyria Sequencing Panel that also includes the following genes: TUBA8 RAB18 CCND2 TBC1D20 RAB3GAP1 RAB3GAP2 NDE1 RTTN TUBA1A TUBB3
More info about this panel United States.
Comprehensive Primordial Dwarfism Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2
More info about this panel United States.
Cerebral Cortical Malformations Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformations Deletion/Duplication Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panel United States.
Polymicrogyria with seizures (sequence analysis of RTTN gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RTTN gene.
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.
Polymicrogyria with seizures Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RTTN gene.
More info about this panel Germany.
Microcephaly, short stature, and polymicrogyria with seizures Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RTTN gene.
More info about this panel Germany.
Neuronal Migration Disorders Panel Panel
Germany.
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panel Germany.
Neuronal Migration Disorders Panel Panel
Germany.
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panel Germany.
Brain malformations Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panel Estonia.
Brain Malformations: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Sequencing Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panel United States.
Neurology: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel United States.
Brain Malformations: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Deletion/Duplication Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panel United States.
RTTN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RTTN gene.
More info about this panel United States.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Finland.
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panel Finland.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel Finland.
3-M Syndrome / Primordial Dwarfism Panel Panel
Finland.
By Blueprint Genetics 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L XRCC4 PCNT SRCAP ORC6 CENPJ CDC45 CDC6 RTTN CUL7
More info about this panel Finland.
Neuronal Migration Disorder Panel Panel
Finland.
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
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