ZNF674 gene related symptoms and diseases

All the information presented here about the ZNF674 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ZNF674 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 ZNF674 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • EEG abnormality
  • Autistic behavior
  • Stereotypy
  • Increased serum serotonin
  • Impaired use of nonverbal behaviors
  • Inflexible adherence to routines or rituals
  • Restrictive behavior
  • Lack of spontaneous play

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ZNF674 gene

Here you will find a list of rare diseases related to the ZNF674. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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


Potential gene panels for ZNF674 gene

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

X-linked Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1

More info about this panel

Mental retardation, X-linked type 92 (sequence analysis of ZNF674 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ZNF674 gene.

More info about this panel

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

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

X-Linked Mental Retardation Panel

Germany.

By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Mental retardation, X-linked type 92 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ZNF674 gene.

More info about this panel

Mental retardation, X-linked, non-syndromic Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Mental retardation, X-linked, non-syndromic that also includes the following genes: RPS6KA3 SLC6A8 KDM5C SYP TSPAN7 ZNF41 ZNF711 ZNF81 FTSJ1 NLGN4X

More info about this panel

XLMR 92: ZNF674 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ZNF674 gene.

More info about this panel

XLMR 92: ZNF674 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ZNF674 gene.

More info about this panel

XLID NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

ZNF674 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZNF674 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

More info about this panel

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

Spain.

By Reference Laboratory Genetics X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: RPS6KA3 SLC6A8 KDM5C SYP TSPAN7 ZNF41 ZNF711 ZNF81 FTSJ1 NLGN4X

More info about this panel


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