ASH1L gene related symptoms and diseases
All the information presented here about the ASH1L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ASH1L gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Pectus carinatum | Very Common - Between 80% and 100% cases |
Hyperactivity | Very Common - Between 80% and 100% cases |
Autism | Very Common - Between 80% and 100% cases |
Deeply set eye | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ASH1L gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Anxiety
- Developmental regression
- Autistic behavior
- Short philtrum
- Prominent nasal bridge
- Absent speech
- Synophrys
- Downturned corners of mouth
And 27 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ASH1L gene
Here you will find a list of rare diseases related to the ASH1L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52
Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52
SOURCES: OMIM
Search interest in ASH1L
Potential gene panels for ASH1L gene
Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel
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 panelAutism Spectrum Disorders/Intellectual Disability via ASH1L Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ASH1L gene.
More info about this panelASH1L Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ASH1L gene.
More info about this panelTempus xO assay Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COL1A2 PRPH2 CDKAL1 DLX5 CCNF TBCE TUBA4A