NSUN2 gene related symptoms and diseases
All the information presented here about the NSUN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NSUN2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Blepharophimosis | Common - Between 50% and 80% cases |
| Abnormality of the dentition | Common - Between 50% and 80% cases |
| Postnatal growth retardation | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with NSUN2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Eczema
- Strabismus
- Telecanthus
- Short stature
- Hypertelorism
- Narrow face
- Microcephaly
Not very common - Between 30% and 50% cases
- Hypoplastic toenails
And 99 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NSUN2 gene
Here you will find a list of rare diseases related to the NSUN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DUBOWITZ SYNDROME
Description
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
Most common symptoms of DUBOWITZ SYNDROME
- Intellectual disability
- Seizures
- Short stature
- Hearing impairment
- Microcephaly
More info about DUBOWITZ SYNDROME
SOURCES: ORPHANET
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
Most common symptoms of MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY
Alternate names
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as ar-nsid, ns-arid
More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY
SOURCES: ORPHANET
Search interest in NSUN2
Potential gene panels for NSUN2 gene
NGS RASopathy Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS RASopathy Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 KAT6B SPRED1 A2ML1
More info about this panel United States.
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.
Autosomal Recessive Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Autosomal Recessive Non-Specific Intellectual Disability Panel that also includes the following genes: ST3GAL3 SLC25A1 STXBP1 VLDLR ERLIN2 CA8 CNTNAP2 ARFGEF2 PCNT L2HGDH
More info about this panel United States.
CustomNext: Neuro Panel
United States.
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
Neurodevelopment-Expanded Panel
United States.
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
IDNext Panel
United States.
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panel United States.
Mental retardation type 5 AR (sequence analysis of NSUN2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NSUN2 gene.
More info about this panel Portugal.
Noonan spectrum disorder Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Noonan spectrum disorder Comprehensive panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel United States.
Noonan spectrum disorder Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Noonan spectrum disorder Deletion / Duplication panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel United States.
Noonan spectrum disorder NGS panel Panel
United States.
By Connective Tissue Gene Tests Noonan spectrum disorder NGS panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel United States.
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.
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.
Mental retardation, autosomal recessive type 5 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NSUN2 gene.
More info about this panel Germany.
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.
NSUN2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NSUN2 gene.
More info about this panel United States.
Hereditary Pediatric Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Comprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Noonan Syndrome Panel Panel
Finland.
By Blueprint Genetics Noonan Syndrome Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel Finland.
DUBOWITZ SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL DUBOWITZ SYNDROME that also includes the following genes: NSUN2 LIG4
More info about this panel Spain.
NOONAN & NOONAN-LIKE SYNDROMES : NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NOONAN & NOONAN-LIKE SYNDROMES : NGS PANEL that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL A2ML1 NSUN2 KRAS LZTR1
More info about this panel Spain.
NOONAN-LIKE SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL NOONAN-LIKE SYNDROME that also includes the following genes: RRAS CBL SHOC2 A2ML1 NSUN2 MAP2K2
More info about this panel Spain.
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 Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: ST3GAL3 STXBP1 TAF2 VLDLR ERLIN2 CA8 CNTNAP2 FMN2 ZC3H14 CRADD
More info about this panel Spain.
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