SLC9A9 gene related symptoms and diseases
All the information presented here about the SLC9A9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC9A9 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Delayed speech and language development | Very Common - Between 80% and 100% cases |
| Atrial septal defect | Very Common - Between 80% and 100% cases |
| Autism | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC9A9 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Autistic behavior
Rare diseases associated to SLC9A9 gene
Here you will find a list of rare diseases related to the SLC9A9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTISM, SUSCEPTIBILITY TO, 16; AUTS16
Alternate names
AUTISM, SUSCEPTIBILITY TO, 16; AUTS16 Is also known as autism with or without seizures
Description
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of heterogeneity of autism, see {209850}.
Most common symptoms of AUTISM, SUSCEPTIBILITY TO, 16; AUTS16
- Intellectual disability
- Seizures
- Delayed speech and language development
- Atrial septal defect
- Autism
More info about AUTISM, SUSCEPTIBILITY TO, 16; AUTS16
SOURCES: OMIM
Search interest in SLC9A9
Potential gene panels for SLC9A9 gene
Autism Spectrum Disorders 53-Gene Panel Panel
United States.
By Center for Human Genetics, Inc Autism Spectrum Disorders 53-Gene Panel that also includes the following genes: RPL10 SYN1 SYNGAP1 TSPAN7 PCDH10 CNTNAP2 SH3KBP1 CACNA1H PCDH19 NLGN4X
More info about this panel United States.
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.
Autism Spectrum Disorders Panel
Estonia.
By Asper Biogene Asper Biogene LLC Autism Spectrum Disorders that also includes the following genes: RPL10 SCN1A SCN2A BRAF SLC6A4 SLC6A8 CDKL5 MED12 TSC1 TSC2
More info about this panel Estonia.
Autism Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Autism that also includes the following genes: RPL10 SLC25A12 SLC6A4 UBE3A CNTNAP2 FOXP2 CACNA1C CACNA1F CACNA1H PCDH19
More info about this panel Spain.
Autism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panel United States.
SLC9A9 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC9A9 gene.
More info about this panel United States.
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel
Spain.
By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panel Spain.
CEN4GEN Colorectal cancer: Extended Sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Colorectal cancer: Extended Sequencing Panel that also includes the following genes: BRAF TCF7L2 TGFBR2 TP53 CASP8 TCERG1 GALNT17 FBXW7 ACVR1B CDC27
More info about this panel Canada.
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