ERLIN1 gene related symptoms and diseases
All the information presented here about the ERLIN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ERLIN1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Scoliosis | Very Common - Between 80% and 100% cases |
| Paraplegia | Very Common - Between 80% and 100% cases |
| Tip-toe gait | Very Common - Between 80% and 100% cases |
| Lower limb pain | Very Common - Between 80% and 100% cases |
| Thoracic scoliosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ERLIN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Knee flexion contracture
- Clonus
- Spastic gait
- Lower limb spasticity
- Abnormal cerebellum morphology
- Spastic paraplegia
- Pain
- Difficulty walking
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ERLIN1 gene
Here you will find a list of rare diseases related to the ERLIN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62
Alternate names
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62 Is also known as spg62
Description
Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.
Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62
- Scoliosis
- Pain
- Spasticity
- Flexion contracture
- Hyperreflexia
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62
Search interest in ERLIN1
Potential gene panels for ERLIN1 gene
Hereditary Spastic Paraplegia Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panel United States.
Hereditary Spastic Paraplegia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 CAPN1 ERLIN1 NIPA1 BICD2 ZFR
More info about this panel United States.
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panel United States.
Spastic Paraplegia 62 via ERLIN1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ERLIN1 gene.
More info about this panel United States.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
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.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
ERLIN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ERLIN1 gene.
More info about this panel United States.
SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP
More info about this panel Spain.
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