SOX10 gene related symptoms and diseases
All the information presented here about the SOX10 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 SOX10 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Aganglionic megacolon | Very Common - Between 80% and 100% cases |
| Sensorineural hearing impairment | Very Common - Between 80% and 100% cases |
| Heterochromia iridis | Common - Between 50% and 80% cases |
| White forelock | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SOX10 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Premature graying of hair
- Hypopigmented skin patches
- White eyebrow
- White eyelashes
- Ataxia
- Telecanthus
- Anosmia
Not very common - Between 30% and 50% cases
- White hair
And 228 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SOX10 gene
Here you will find a list of rare diseases related to the SOX10. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
WAARDENBURG-SHAH SYNDROME
Alternate names
WAARDENBURG-SHAH SYNDROME Is also known as shah-waardenburg syndrome, waardenburg-hirschsprung syndrome, ws4, waardenburg syndrome type 4
Description
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).
Most common symptoms of WAARDENBURG-SHAH SYNDROME
- Hearing impairment
- Wide nasal bridge
- Constipation
- Abdominal pain
- Telecanthus
More info about WAARDENBURG-SHAH SYNDROME
SOURCES: ORPHANET
WAARDENBURG SYNDROME TYPE 2
Alternate names
WAARDENBURG SYNDROME TYPE 2 Is also known as ws2, waardenburg syndrome type ii
Description
Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS; see this term), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.
Most common symptoms of WAARDENBURG SYNDROME TYPE 2
- Hearing impairment
- Sensorineural hearing impairment
- Ptosis
- Telecanthus
- Abnormality of the kidney
More info about WAARDENBURG SYNDROME TYPE 2
SOURCES: ORPHANET
MICROPHTHALMIA WITH LIMB ANOMALIES
Alternate names
MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome, waardenburg syndrome, type ivc, waardenburg syndrome with hirschsprung disease, type 4c, oas, anophthalmia-syndactyly syndrome, ophthalmoacromelic syndrome
Description
Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
Most common symptoms of MICROPHTHALMIA WITH LIMB ANOMALIES
- Short stature
- Hearing impairment
- Failure to thrive
- Micrognathia
- Sensorineural hearing impairment
More info about MICROPHTHALMIA WITH LIMB ANOMALIES
WAARDENBURG SYNDROME, TYPE 2E; WS2E
Alternate names
WAARDENBURG SYNDROME, TYPE 2E; WS2E Is also known as hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation, waardenburg syndrome, type 2e, with or without neurologic involvement, ws2e, with or without neurologic involvement, waardenburg syndrome, type iie
Description
Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (OMIM ), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).For a description of other clinical variants of Waardenburg syndrome, see WS1 (OMIM ), WS3 (OMIM ), and WS4 (OMIM ).
Most common symptoms of WAARDENBURG SYNDROME, TYPE 2E; WS2E
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Ataxia
More info about WAARDENBURG SYNDROME, TYPE 2E; WS2E
SOURCES: OMIM
KALLMANN SYNDROME
Alternate names
KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia, olfacto-genital pathological sequence
Description
Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).
Most common symptoms of KALLMANN SYNDROME
- Seizures
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
- Muscle weakness
More info about KALLMANN SYNDROME
SOURCES: ORPHANET
PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE
Alternate names
PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome, waardenburg-shah syndrome, neurologic variant, pcwh, ws4 plus
Description
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.
Most common symptoms of PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE
HIRSCHSPRUNG DISEASE
Alternate names
HIRSCHSPRUNG DISEASE Is also known as hscr, aganglionic megacolon, congenital intestinal aganglionosis, hirschsprung disease, megacolon, aganglionic, mgc
Description
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
Most common symptoms of HIRSCHSPRUNG DISEASE
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about HIRSCHSPRUNG DISEASE
Search interest in SOX10
Potential gene panels for SOX10 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
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 United States.
NGS Hearing Loss Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A
More info about this panel United States.
Waardenburg syndrome, type 2e Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the SOX10 gene.
More info about this panel United States.
Waardenburg syndrome, type 4c Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the SOX10 gene.
More info about this panel United States.
Waardenburg Syndrome, Type 4 C - SOX10 Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the SOX10 gene.
More info about this panel United States.
OtoSCOPE Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panel United States.
Hearing Loss Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
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.
OtoGenome Test for Hearing Loss (110 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panel United States.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panel United States.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panel United States.
SOX10. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SOX10 gene.
More info about this panel Spain.
Waardenburg Seq + Del/Dup Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Waardenburg Seq + Del/Dup Analysis that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel United States.
Waardenburg Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Waardenburg Del/Dup Panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel United States.
Waardenburg Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Waardenburg Seq Analysis that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel United States.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
Syndromic deafness (NGS panel for 62 genes) Panel
Portugal.
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Portugal.
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
Portugal.
By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK
More info about this panel Portugal.
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
Portugal.
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel Portugal.
Waardenburg syndrome type 4 (sequence analysis of SOX10 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SOX10 gene.
More info about this panel Portugal.
Waardenburg syndrome (NGS panel of 7 genes) Panel
Portugal.
By CGC Genetics Waardenburg syndrome (NGS panel of 7 genes) that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
More info about this panel Portugal.
Waardenburg syndrome (deletions/duplications analysis of SOX10 and EDNRB genes) Panel
Portugal.
By CGC Genetics Waardenburg syndrome (deletions/duplications analysis of SOX10 and EDNRB genes) that also includes the following genes: SOX10 EDNRB
More info about this panel Portugal.
Waardenburg syndrome (NGS panel of 7 genes) Panel
Portugal.
By CGC Genetics Waardenburg syndrome (NGS panel of 7 genes) that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
More info about this panel Portugal.
Waardenburg syndrome (deletions/duplications analysis of SOX10 and EDNRB genes) Panel
Portugal.
By CGC Genetics Waardenburg syndrome (deletions/duplications analysis of SOX10 and EDNRB genes) that also includes the following genes: SOX10 EDNRB
More info about this panel Portugal.
Waardenburg Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Waardenburg Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel United States.
Kallmann Syndrome (KS) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Kallmann Syndrome (KS) Sequencing Panel with CNV Detection that also includes the following genes: SOX10 TACR3 PROKR2 IL17RD PROK2 CHD7 FGF8 FGFR1 GNRHR ANOS1
More info about this panel United States.
Waardenburg Syndrome Types IIE and IVC via SOX10 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SOX10 gene.
More info about this panel United States.
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E SOX10 SOX2 SOX3 TAC3 TACR3 WDR11 SPRY4 PROKR2
More info about this panel United States.
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panel United States.
Female Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Male Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Hypopigmentation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypopigmentation Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panel United States.
Ambiguous Genitalia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panel United States.
Waardenburg syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Waardenburg syndrome NGS panel that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
More info about this panel United States.
Waardenburg syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Waardenburg syndrome Comprehensive panel that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
More info about this panel United States.
Waardenburg syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Waardenburg syndrome Deletion / Duplication panel that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
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.
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.
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.
Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SOX10 gene.
More info about this panel Germany.
Hirschsprung disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SOX10 gene.
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.
Waardenburg syndrome, type 2E, with or without neurologic involvement Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SOX10 gene.
More info about this panel Germany.
Waardenburg syndrome, type 4C Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SOX10 gene.
More info about this panel Germany.
Waardenburg syndrome, Type 2E and Type 4C Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the SOX10 gene.
More info about this panel Germany.
Syndromic Hearing Loss Panel Panel
Germany.
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Germany.
Genetic disorders with abnormal pigmentation Panel Panel
Germany.
By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST
More info about this panel Germany.
Leukodystrophy / Leukencephalopathy Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH
More info about this panel Germany.
Leukodystrophy and Leukoencephalopathy Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH
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.
Leukodystrophy / 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 panel Germany.
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
Germany.
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panel Germany.
Single gene testing SOX10 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SOX10 gene.
More info about this panel Germany.
Leukodystrophy / Leukoencephalopathy Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1
More info about this panel Germany.
Waardenburg Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Waardenburg Syndrome that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel Estonia.
Leukodystrophy and Leukoencephalopathy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Leukodystrophy and Leukoencephalopathy that also includes the following genes: SCP2 AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1
More info about this panel Estonia.
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel
United States.
By Molecular Vision Laboratory Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panel United States.
Waardenburg Syndrome panel Panel
United States.
By Molecular Vision Laboratory Waardenburg Syndrome panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3 RET
More info about this panel United States.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
Waardenburg, Syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Waardenburg, Syndrome that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel Spain.
Leukodistrophy Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukodistrophy that also includes the following genes: SCP2 AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1
More info about this panel Spain.
Hearing Loss: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panel United States.
Waardenburg Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Waardenburg Syndrome NGS Panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel United States.
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.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
SOX10 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SOX10 gene.
More info about this panel United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Hirschsprung Disease Panel Panel
Finland.
By Blueprint Genetics Hirschsprung Disease Panel that also includes the following genes: RMRP BDNF SOX10 ZEB2 KIF1BP EDN3 EDNRB CELSR3 L1CAM MITF
More info about this panel Finland.
Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panel Finland.
Waardenburg Syndrome Panel Panel
Finland.
By Blueprint Genetics Waardenburg Syndrome Panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB KIT MITF PAX3
More info about this panel Finland.
Leukodystrophy and Leukoencephalopathy Panel Panel
Finland.
By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1
More info about this panel Finland.
Craniosynostosis Panel Panel
Finland.
By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
Waardenburg syndrome, type 4C Panel
Spain.
By Bioarray
This panel specifically test the SOX10 gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
HIRSCHSPRUNG´S DISEASE: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HIRSCHSPRUNG´S DISEASE: NGS PANEL that also includes the following genes: SEMA3A SEMA3C SEMA3D SOX10 ZEB2 KIF1BP ECE1 EDN3 EDNRB GDNF
More info about this panel Spain.
HIRSCHSPRUNG´S DISEASE Panel
Spain.
By Laboratorio de Genetica Clinica SL HIRSCHSPRUNG´S DISEASE that also includes the following genes: SOX10 EDN3 EDNRB GDNF NRG1 RET
More info about this panel Spain.
WAARDENBURG SYNDROME TYPE 2 Panel
Spain.
By Laboratorio de Genetica Clinica SL WAARDENBURG SYNDROME TYPE 2 that also includes the following genes: SNAI2 SOX10 MITF
More info about this panel Spain.
WAARDENBURG-SHAH SYNDROME, NEUROLOGICAL VARIANT (TYPE 4) Panel
Spain.
By Laboratorio de Genetica Clinica SL WAARDENBURG-SHAH SYNDROME, NEUROLOGICAL VARIANT (TYPE 4) that also includes the following genes: SOX10 EDN3 EDNRB
More info about this panel Spain.
WAARDENBURG SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL WAARDENBURG SYNDROME NGS PANEL that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
More info about this panel Spain.
Waardenburg Syndrome Type 4C , Sequencing SOX10 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SOX10 gene.
More info about this panel Spain.
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel
Spain.
By Reference Laboratory Genetics Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes that also includes the following genes: AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1 GJC2
More info about this panel Spain.
Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel Spain.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: gene sequencing panel that also includes the following genes: SOX10 TACR3 PROKR2 IL17RD CHD7 FGFR1 GNRHR ANOS1
More info about this panel Canada.
Syndromic Hirschsprung Disease: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: BDNF SDCCAG8 SOX10 ARL6 ZEB2 TRIM32 BBS7 TTC8 KIF1BP BBS10
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 HESX1 AMPD1 RMND1 CYLD GATA1 ACER3 MIR3681HG