NR2F1 gene related symptoms and diseases
All the information presented here about the NR2F1 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 NR2F1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Upslanted palpebral fissure | Very Common - Between 80% and 100% cases |
Obsessive-compulsive behavior | Very Common - Between 80% and 100% cases |
Cerebral visual impairment | Very Common - Between 80% and 100% cases |
Optic disc pallor | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NR2F1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Tapered finger
- Prominent nasal bridge
- Protruding ear
- Reduced visual acuity
- Anteverted nares
- Global developmental delay
- Optic atrophy
- Epicanthus
And 6 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NR2F1 gene
Here you will find a list of rare diseases related to the NR2F1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME
Alternate names
OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas, bosch-boonstra-schaaf optic atrophy syndrome
Description
Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.
Most common symptoms of OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Nystagmus
- Strabismus
More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME
Search interest in NR2F1
Potential gene panels for NR2F1 gene
Epilepsy Advanced Sequencing and CNV Evaluation Panel

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms Panel

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms that also includes the following genes: SCN2A ST3GAL3 SLC35A2 SPTAN1 CDKL5 STXBP1 CACNA2D1 ARX SLC25A22 ADSL
More info about this panel
Hearing Loss Advanced Sequencing and CNV Evaluation Panel

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel
Optic Atrophy and Early Glaucoma Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP
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Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via NR2F1 Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the NR2F1 gene.
More info about this panel
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel
Optic Atrophy Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Optic Atrophy Sequencing Panel with CNV Detection that also includes the following genes: SLC24A1 SPG7 ACO2 TIMM8A WFS1 MFN2 CISD2 TMEM126A MTPAP C12orf65
More info about this panel
Mental retardation - different panels Panel

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
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NR2F1 Panel

By MGZ Medical Genetics Center
This panel specifically test the NR2F1 gene.
More info about this panel
Optic Atrophy Panel Panel

By CeGaT GmbH Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A VAX2 WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A
More info about this panel
Retinal Dystrophy Panel Panel

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel
MVL Vision Panel Panel

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel
NR2F1 Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the NR2F1 gene.
More info about this panel
Early-Onset Epileptic Encephalopathy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panel
Comprehensive Epilepsy NGS Panel Panel

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
Retinal Dystrophy Panel Panel

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel
Neuro-Ophthalmology Panel Panel

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4
More info about this panel
Optic Atrophy Panel Panel

By Blueprint Genetics Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 SNX10 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A
More info about this panel
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel
OPTIC ATROPHY NGS PANEL Panel

By Laboratorio de Genetica Clinica SL OPTIC ATROPHY NGS PANEL that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A C12orf65
More info about this panel
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