SPG21 gene related symptoms and diseases
All the information presented here about the SPG21 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SPG21 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Brisk reflexes | Very Common - Between 80% and 100% cases |
| Abnormality of extrapyramidal motor function | Very Common - Between 80% and 100% cases |
| Apraxia | Very Common - Between 80% and 100% cases |
| Paraparesis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SPG21 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Spastic paraparesis
- Mutism
- Incoordination
- Bulbar signs
- Lower limb muscle weakness
- Abnormality of peripheral nerve conduction
- Primitive reflex
- Dysgraphia
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
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Rare diseases associated to SPG21 gene
Here you will find a list of rare diseases related to the SPG21. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21
Alternate names
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21 Is also known as mast syndrome, spg21, spastic paraplegia 21, autosomal recessive
Description
Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.
Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21
- Global developmental delay
- Spasticity
- Motor delay
- Peripheral neuropathy
- Hyperreflexia
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21
Search interest in SPG21
Potential gene panels for SPG21 gene
HSP, Comprehensive Evaluation Panel
United States.
By Athena Diagnostics Inc HSP, Comprehensive Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 SPART
More info about this panelHSP, Supplemental Sporadic Evaluation Panel
United States.
By Athena Diagnostics Inc HSP, Supplemental Sporadic Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 BSCL2 PNPLA6 NIPA1 SPART SPG21 ZFYVE26
More info about this panelHSP, Supplemental Recessive Evaluation Panel
United States.
By Athena Diagnostics Inc HSP, Supplemental Recessive Evaluation that also includes the following genes: SACS PNPLA6 SPART SPG21 FA2H AP5Z1 CYP7B1 ALS2 KIF1A
More info about this panelHSP, Complete Recessive Evaluation Panel
United States.
By Athena Diagnostics Inc HSP, Complete Recessive Evaluation that also includes the following genes: SACS SPG11 SPG7 PNPLA6 SPART SPG21 ZFYVE26 FA2H AP5Z1 CYP7B1
More info about this panelHereditary 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 panelTest for Spastic Paraplegia 21 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the SPG21 gene.
More info about this panelHSPAR panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht HSPAR panel that also includes the following genes: SACS SPG11 SPG7 CCT5 PNPLA6 GJC2 SPART SPG21 ZFYVE26 CYP7B1
More info about this panelHereditary 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 panelAtaxia 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 panelSpastic paraplegia 21 (SPG21, sequence analysis of SPG21) Panel
Portugal.
By CGC Genetics
This panel specifically test the SPG21 gene.
More info about this panelHereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) Panel
Portugal.
By CGC Genetics Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) that also includes the following genes: SPG11 SPG7 TFG ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2
More info about this panelSpastic paraplegia 21 (SPG21, sequence analysis of SPG21/ACP33) Panel
Portugal.
By CGC Genetics
This panel specifically test the SPG21 gene.
More info about this panelHereditary spastic paraplegia (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Hereditary spastic paraplegia (NGS panel for 43 genes) that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 TFG ERLIN2 BSCL2 PNPLA6 NIPA1
More info about this panelSpastic Paraplegia 21 (Mast Syndrome) via SPG21(ACP33) Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SPG21 gene.
More info about this panelComplex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
More info about this panelHereditary 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 panelNeurogenetic 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 panelSPG21 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SPG21 gene.
More info about this panelAllNeuro 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 panelHereditary 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 panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panelHereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel that also includes the following genes: SLC1A4 SPG11 SPG7 TFG ERLIN2 ABHD12 CCT5 PNPLA6 GJC2 REEP2
More info about this panelHereditary Spastic Paraplegia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Hereditary Spastic Paraplegia that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ERLIN2 BSCL2 PNPLA6 NIPA1
More info about this panelInvitae Hereditary Spastic Paraplegia Autosomal Recessive Panel Panel
United States.
By Invitae Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel that also includes the following genes: SACS SPG11 SPG7 ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2
More info about this panelInvitae Hereditary Spastic Paraplegia Comprehensive Panel Panel
United States.
By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2
More info about this panelSPASTIC PARAPLEGIA A.R Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SPASTIC PARAPLEGIA A.R that also includes the following genes: SPG11 SPG7 ERLIN2 PNPLA6 GJC2 SPART SPG21 ZFYVE26 FA2H AP5Z1
More info about this panelHereditary Neuropathies: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelHereditary Neuropathies: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelSpastic Paraplegia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Spastic Paraplegia NGS Panel that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ACOX1 BSCL2 NIPA1 SPART
More info about this panelSPG21 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPG21 gene.
More info about this panelSPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL RECESSIVE) that also includes the following genes: SPG11 SPG7 PNPLA6 SPART SPG21 ZFYVE26 AP5Z1 CYP7B1
More info about this panelSPASTIC 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 panelMast Syndrome , Sequencing SPG21 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SPG21 gene.
More info about this panelHereditary Spastic Paraplegia: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Spastic Paraplegia: gene sequencing panel that also includes the following genes: RTN2 SLC16A2 ATL1 SPAST ERLIN2 BSCL2 NIPA1 GJC2 SPART GBA2
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