KMT5B gene related symptoms and diseases

All the information presented here about the KMT5B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KMT5B gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Immunodeficiency Very Common - Between 80% and 100% cases
Febrile seizures Very Common - Between 80% and 100% cases
Facial asymmetry Very Common - Between 80% and 100% cases
Abnormality of the foot Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KMT5B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Microtia
  • Autistic behavior
  • Proptosis
  • Autism
  • Posteriorly rotated ears
  • Absent speech
  • Ventriculomegaly
  • Seizures

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KMT5B gene

Here you will find a list of rare diseases related to the KMT5B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51


Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

SOURCES: OMIM


Potential gene panels for KMT5B gene

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel

Autism Spectrum Disorders via KMT5B (SUV420H1) Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KMT5B gene.

More info about this panel

KMT5B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KMT5B gene.

More info about this panel

SUV420H1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KMT5B gene.

More info about this panel

Autism Spectrum Disorders Panel Panel

Finland.

By Blueprint Genetics Autism Spectrum Disorders Panel that also includes the following genes: RPL10 TCF20 TRIP12 TSC1 TSC2 BCL11A CACNA1C NSD1 NLGN4X NLGN3

More info about this panel

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


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