SLC6A8 gene related symptoms and diseases

All the information presented here about the SLC6A8 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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to SLC6A8 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Delayed speech and language development	Very Common - Between 80% and 100% cases
Autistic behavior	Very Common - Between 80% and 100% cases
Stereotypy	Very Common - Between 80% and 100% cases
Seizures	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC6A8 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Impaired use of nonverbal behaviors
Aganglionic megacolon
Cachexia
External ophthalmoplegia
Narrow face
Exotropia
Restrictive behavior
Tall stature

And 68 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SLC6A8 gene

Here you will find a list of rare diseases related to the SLC6A8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

X-LINKED CREATINE TRANSPORTER DEFICIENCY

Alternate names

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency, mental retardation, x-linked, with creatine transport deficiency, creatine deficiency syndrome, x-linked, mental retardation, x-linked, with seizures, short stature, and midface hypoplasia, creatine transporter deficiency, creatine transport

Description

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

Most common symptoms of X-LINKED CREATINE TRANSPORTER DEFICIENCY

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

SOURCES: OMIM ORPHANET MESH

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

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 genetic heterogeneity of autism, see {209850}.

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Intellectual disability
Seizures
Delayed speech and language development
Atrial septal defect
Autism

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

SOURCES: MESH OMIM

Search interest in SLC6A8

Potential gene panels for SLC6A8 gene

SLC6A8 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC6A8 gene.

SLC6A8 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SLC6A8 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to SLC6A8 gene

X-LINKED CREATINE TRANSPORTER DEFICIENCY

Alternate names

Description

Most common symptoms of X-LINKED CREATINE TRANSPORTER DEFICIENCY

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Search interest in SLC6A8

Potential gene panels for SLC6A8 gene

SLC6A8 Sequence Analysis (Prenatal Diagnosis) Panel

SLC6A8 Sequence Analysis Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

SLC6A8-Related Creatine Transporter Deficiency Panel

Creatine Transporter Deficiency Panel

Epilepsy/Seizure Panel

Infantile Epilepsy Panel

SLC6A8 Sequencing Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Dystonia Exome Panel Panel

SLC6A8 (CT1) - CREATINE DEFICIENCY SYNDROME, X-LINKED Panel

Epilepsy Panel - Comprehensive Panel

Creatine Transporter Deficiency (SLC6A8) Sequencing and Deletion/Duplication Panel

Creatine Transporter Deficiency (SLC6A8) Sequencing Panel

Creatine Transporter Deficiency (SLC6A8) Deletion/Duplication Panel

AutismNext Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

SLC6A8. Complete sequencing Panel

Rapid Epilepsy Seq Analysis Panel

Rapid Epilepsy Seq + Del/Dup Panel Panel

CHOP Epilepsy Panel Panel

Rapid Epilepsy Del/Dup Panel Panel

X-linked mental retardation (deletion/duplication analysis, multiple genes) Panel

Creatine deficiency syndrome (sequence analysis of SLC6A8 gene) Panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Creatine Deficiency Syndrome via SLC6A8 Gene Sequencing with CNV Detection Panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

SLC6A8-Related Creatine Transporter Deficiency Panel

Neurogenetic Disorders - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Mitochondrial Diseases Panel

Mitochondrial Encephalopathy Panel

Epilepsy Panel

Creatine transporter (SLC6A8) deficiency Panel

Epileptic syndromes with epilepsy and intellectual disability panel Panel

AllNeuro panel Panel

Creatine deficiency syndrome X-linked Panel

Nuclear encoded Mitochondriopathies Panel Panel

Single gene testing SLC6A8 Panel

SLC6A8-Related Creatine Transporter Deficiency Panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Epilepsy Panel

Autism Spectrum Disorders Panel

qCarrier Plus Panel

Invitae Cerebral Creatine Deficiency Panel Panel

Invitae Epilepsy Panel Panel

Invitae Treatable Neurometabolic Disorders Panel Panel

Mental retardation, X-linked, non-syndromic Panel

Intellectual Disability NGS Panel Panel

Nuclear-Mito NGS Panel Panel

SLC6A8 Panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

X-chromosome High Resolution microarray analysis Panel

Creatine Metabolism Deficiency Panel Panel