KAT6A gene related symptoms and diseases
All the information presented here about the KAT6A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KAT6A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Broad nasal tip | Uncommon - Between 30% and 50% cases |
| Gastroesophageal reflux | Uncommon - Between 30% and 50% cases |
| Thin upper lip vermilion | Uncommon - Between 30% and 50% cases |
| Neonatal hypotonia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KAT6A gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hydronephrosis
- Low-set, posteriorly rotated ears
- Craniosynostosis
- Abnormal cardiac septum morphology
- Prominent nasal bridge
- Poor speech
- Downturned corners of mouth
- Intestinal malrotation
And 38 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KAT6A gene
Here you will find a list of rare diseases related to the KAT6A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT INTELLECTUAL DISABILITY-CRANIOFACIAL ANOMALIES-CARDIAC DEFECTS SYNDROME
Most common symptoms of AUTOSOMAL DOMINANT INTELLECTUAL DISABILITY-CRANIOFACIAL ANOMALIES-CARDIAC DEFECTS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about AUTOSOMAL DOMINANT INTELLECTUAL DISABILITY-CRANIOFACIAL ANOMALIES-CARDIAC DEFECTS SYNDROME
ACUTE MYELOID LEUKEMIA WITH T(8;16)(P11;P13) TRANSLOCATION
Alternate names
ACUTE MYELOID LEUKEMIA WITH T(8;16)(P11;P13) TRANSLOCATION Is also known as aml with t(8;16)(p11;p13) translocation
Description
Acute myeloid leukemia (AML) with (8;16)(p11;p13) translocation is a distinct form of AML in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.
More info about ACUTE MYELOID LEUKEMIA WITH T(8;16)(P11;P13) TRANSLOCATION
SOURCES: ORPHANET
Search interest in KAT6A
Potential gene panels for KAT6A gene
CustomNext: Neuro Panel
United States.
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
Neurodevelopment-Expanded Panel
United States.
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
IDNext Panel
United States.
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
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 Germany.
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 Germany.
Mental retardation, autosomal dominant type 32 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KAT6A gene.
More info about this panel Germany.
KAT6A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KAT6A gene.
More info about this panel United States.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
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 United States.
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