SPATA7 gene related symptoms and diseases
All the information presented here about the SPATA7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SPATA7 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Visual loss | Common - Between 50% and 80% cases |
| Blindness | Common - Between 50% and 80% cases |
| Retinal dystrophy | Common - Between 50% and 80% cases |
| Nystagmus | Common - Between 50% and 80% cases |
| Photophobia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SPATA7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Visual impairment
Not very common - Between 30% and 50% cases
- Abnormality of retinal pigmentation
- Retinal degeneration
- Reduced visual acuity
- Abnormal electroretinogram
- Retinopathy
- Keratoconus
- Rod-cone dystrophy
And 85 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SPATA7 gene
Here you will find a list of rare diseases related to the SPATA7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LEBER CONGENITAL AMAUROSIS
Alternate names
LEBER CONGENITAL AMAUROSIS Is also known as crb, amaurosis congenita of leber i, lca, amaurosis congenita of leber, retinal blindness, congenital
Description
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
Most common symptoms of LEBER CONGENITAL AMAUROSIS
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Growth delay
More info about LEBER CONGENITAL AMAUROSIS
LEBER CONGENITAL AMAUROSIS 3; LCA3
Description
Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997).Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement.For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (OMIM ); for retinitis pigmentosa, see {268000}.
Most common symptoms of LEBER CONGENITAL AMAUROSIS 3; LCA3
- Nystagmus
- Visual impairment
- Visual loss
- Rod-cone dystrophy
- Reduced visual acuity
More info about LEBER CONGENITAL AMAUROSIS 3; LCA3
RETINITIS PIGMENTOSA
Description
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Most common symptoms of RETINITIS PIGMENTOSA
- Intellectual disability
- Nystagmus
- Sensorineural hearing impairment
- Cataract
- Visual impairment
More info about RETINITIS PIGMENTOSA
SOURCES: ORPHANET
SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY
Alternate names
SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY Is also known as secord, macular degeneration, juvenile, macular dystrophy with flecks, type 1, eosrd, stgd, early-onset severe retinal dystrophy
Description
Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.
Most common symptoms of SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY
- Blindness
- Visual loss
- Reduced visual acuity
- Photophobia
- Nyctalopia
More info about SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY
Search interest in SPATA7
Potential gene panels for SPATA7 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
SPATA7 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SPATA7 gene.
More info about this panel United States.
SPATA7 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SPATA7 gene.
More info about this panel United States.
SPATA7 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SPATA7 gene.
More info about this panel United States.
SPATA7 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SPATA7 gene.
More info about this panel United States.
Leber Congential Amaurosis Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories Leber Congential Amaurosis Panel (MitomeNGS) that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panel United States.
Leber Congenital Amaurosis Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7 CRB1
More info about this panel United States.
Retinitis Pigmentosa Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel United States.
Ciliopathies Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1
More info about this panel United States.
SPATA7 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SPATA7 gene.
More info about this panel Germany.
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel United States.
Leber congenital amaurosis 3 (LCA3, sequence analysis of SPATA7 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SPATA7 gene.
More info about this panel Portugal.
Leber congenital amaurosis (NGS panel for 20 genes) Panel
Portugal.
By CGC Genetics Leber congenital amaurosis (NGS panel for 20 genes) that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel Portugal.
Retinitis pigmentosa (NGS panel for 72 genes) Panel
Portugal.
By CGC Genetics Retinitis pigmentosa (NGS panel for 72 genes) that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel Portugal.
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) Panel
Portugal.
By CGC Genetics Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
More info about this panel Portugal.
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG SEMA4A TULP1 USH2A CLRN1 BEST1
More info about this panel United States.
Leber Congenital Amaurosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leber Congenital Amaurosis Sequencing Panel with CNV Detection that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 INPP5E CNGA3
More info about this panel United States.
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR SAG SEMA4A TULP1
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection that also includes the following genes: RHO RP1 RPE65 TULP1 USH2A RPGRIP1 CABP4 PRPF8 NMNAT1 CHM
More info about this panel United States.
Leber congenital amaurosis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Comprehensive panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Leber congenital amaurosis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Deletion / Duplication panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Leber congenital amaurosis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders NGS panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
SPATA7-Related Leber Congenital Amaurosis Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the SPATA7 gene.
More info about this panel Germany.
Leber congenital amaurosis type 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SPATA7 gene.
More info about this panel Germany.
Retinitis pigmentosa, juvenile, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SPATA7 gene.
More info about this panel Germany.
Retinitis pigmentosa, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Retinitis pigmentosa, autosomal recessive and X-linked Panel that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
More info about this panel Germany.
Leber Congenital Amaurosis Panel Panel
Germany.
By CeGaT GmbH Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel Germany.
Leber Congenital Amaurosis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Leber Congenital Amaurosis that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX CEP290
More info about this panel Estonia.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Retinal Dystrophy Panel Panel
United States.
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 United States.
Leber congenital amaurosis panel Panel
United States.
By Molecular Vision Laboratory Leber congenital amaurosis panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panel United States.
MVL Vision Panel Panel
United States.
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 United States.
Invitae Leber Congenital Amaurosis Panel Panel
United States.
By Invitae Invitae Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel United States.
RETINITIS PIGMENTOSA A.R. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA A.R. that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TULP1 USH2A BEST1
More info about this panel Spain.
Leber Congenital Amaurosis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leber Congenital Amaurosis that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel Spain.
RETINITIS PIGMENTOSA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel Spain.
Eye Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel United States.
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel United States.
Ciliopathies: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panel United States.
Retina/Photoreceptor Dystrophy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel United States.
Ciliopathies: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A
More info about this panel United States.
Eye Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Ciliopathies NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panel United States.
Eye Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel United States.
Retinitis Pigmentosa NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Retinitis Pigmentosa NGS Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel United States.
SPATA7 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPATA7 gene.
More info about this panel United States.
Retinal Dystrophy Panel Panel
Finland.
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 Finland.
Leber Congenital Amaurosis Panel Panel
Finland.
By Blueprint Genetics Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 CWC27 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CNGA3
More info about this panel Finland.
Retinitis Pigmentosa Panel Panel
Finland.
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panel Finland.
LEBER CONGENITAL AMAUROSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL LEBER CONGENITAL AMAUROSIS that also includes the following genes: RPE65 TULP1 RPGRIP1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1 CEP290
More info about this panel Spain.
LEBER CONGENITAL AMAUROSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL LEBER CONGENITAL AMAUROSIS NGS PANEL that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 PMPCA RD3 RDH12 SPATA7 CRB1
More info about this panel Spain.
RETINITIS PIGMENTOSA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA NGS PANEL that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel Spain.
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TULP1 USH2A BEST1
More info about this panel Spain.
Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes Panel
Spain.
By Reference Laboratory Genetics Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel Spain.
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes Panel
Spain.
By Reference Laboratory Genetics Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel Spain.
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG TULP1 USH2A CLRN1 BEST1 ARL6
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like AHCY COL18A1 THSD4 HCFC1 GDF1 CEP128 CFHR3