TSPAN7 gene related symptoms and diseases

All the information presented here about the TSPAN7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, 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 TSPAN7 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Neonatal hypotonia	Uncommon - Between 30% and 50% cases
Intellectual disability, mild	Uncommon - Between 30% and 50% cases
Abnormality of the head	Uncommon - Between 30% and 50% cases
Plagiocephaly	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TSPAN7 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Postnatal microcephaly
Poor speech
Hypermetropia
Autistic behavior
Aggressive behavior
Macrotia
Seizures
Brachycephaly

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TSPAN7 gene

Here you will find a list of rare diseases related to the TSPAN7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx, mrx18, mental retardation, x-linked 78, mrx78, mental retardation, x-linked 18

Description

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: MESH OMIM ORPHANET

MENTAL RETARDATION, X-LINKED 58; MRX58

Most common symptoms of MENTAL RETARDATION, X-LINKED 58; MRX58

Intellectual disability
Intellectual disability, mild
Intellectual disability, moderate

More info about MENTAL RETARDATION, X-LINKED 58; MRX58

SOURCES: MESH OMIM

Search interest in TSPAN7

Potential gene panels for TSPAN7 gene

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

TSPAN7 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TSPAN7 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to TSPAN7 gene

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

Description

Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

MENTAL RETARDATION, X-LINKED 58; MRX58

Most common symptoms of MENTAL RETARDATION, X-LINKED 58; MRX58

Search interest in TSPAN7

Potential gene panels for TSPAN7 gene

NGS XLID Panel Panel

X-linked mental retardation 58 Panel

Autism Spectrum Disorders 53-Gene Panel Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Mental retardation, X-linked type 58 (sequence analysis of TSPAN7 gene) Panel

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

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

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

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

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Brain Malformations / Neuronal Migration Disorders Panel

AllNeuro panel Panel

Mental retardation, X-linked type 58 Panel

Mental retardation, X-linked, non-syndromic Panel

XLMR 58: TSPAN7 Full Gene Sequencing Panel

XLMR 58: TSPAN7 Gene Deletion/Duplication Panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

Intellectual Disability NGS Panel Panel

XLID NGS Panel Panel

TSPAN7 Panel

X-chromosome High Resolution microarray analysis Panel

X-linked Intellectual Disability Panel Panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel