KAT6B gene related symptoms and diseases

All the information presented here about the KAT6B 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 KAT6B gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Micrognathia Very Common - Between 80% and 100% cases
Feeding difficulties Very Common - Between 80% and 100% cases
Cryptorchidism Very Common - Between 80% and 100% cases
Atrial septal defect Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KAT6B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hearing impairment
  • Hypothyroidism
  • Muscular hypotonia
  • Microcephaly
  • Low-set ears
  • Global developmental delay
  • Ventricular septal defect
  • Patent ductus arteriosus

And 282 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to KAT6B gene

Here you will find a list of rare diseases related to the KAT6B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

Alternate names

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE Is also known as say-barber-biesecker-young-simpson syndrome, sbbyss, hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Description

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

Most common symptoms of BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

SOURCES: ORPHANET

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Alternate names

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome, ohdo syndrome, ohdo-madokoro-sonoda syndrome, say-barber-biesecker-young-simpson syndrome, bmrs, ohdo type, yss, blepharophimosis syndrome, ohdo type

Description

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

Most common symptoms of BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

SOURCES: ORPHANET OMIM

OHDO SYNDROME

Alternate names

OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome, mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Most common symptoms of OHDO SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about OHDO SYNDROME

SOURCES: OMIM

NOONAN SYNDROME

Description

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Most common symptoms of NOONAN SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


More info about NOONAN SYNDROME

SOURCES: ORPHANET

GENITOPATELLAR SYNDROME

Alternate names

GENITOPATELLAR SYNDROME Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome, absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

Description

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

Most common symptoms of GENITOPATELLAR SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about GENITOPATELLAR SYNDROME

SOURCES: ORPHANET MESH OMIM


Potential gene panels for KAT6B gene

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel
United States.

NGS RASopathy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS RASopathy Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 KAT6B SPRED1 A2ML1

More info about this panel
United States.

KAT6B Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the KAT6B gene.

More info about this panel
United States.

KAT6B Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the KAT6B gene.

More info about this panel
United States.

Noonan Spectrum Disorders Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Noonan Spectrum Disorders Panel, Sequencing that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 KAT6B SPRED1 RAB40AL HRAS KRAS

More info about this panel
United States.

Noonan Spectrum Disorders Panel, Sequencing, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Noonan Spectrum Disorders Panel, Sequencing, Fetal that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 KAT6B SPRED1 RAB40AL HRAS KRAS

More info about this panel
United States.

KAT6B. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KAT6B gene.

More info about this panel
Spain.

KAT6B. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KAT6B gene.

More info about this panel
Spain.

KAT6B. Sequencing of the exon 18 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KAT6B gene.

More info about this panel
Spain.

KAT6B. Sequencing of the exons 2 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KAT6B gene.

More info about this panel
Spain.

Genitopatellar syndrome (sequence analysis of KAT6B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KAT6B gene.

More info about this panel
Portugal.

KAT6B-Related Disorders via KAT6B Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KAT6B gene.

More info about this panel
United States.

Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 SPRY1 CBL SHOC2 KAT6B A2ML1

More info about this panel
United States.

Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection that also includes the following genes: RIT1 SCN5A SLC17A5 BRAF SOS1 CBL SHOC2 KAT6B CHRNA1 CHRND

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.

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel
Germany.

Genitopatellar syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KAT6B gene.

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

Noonan Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Noonan Syndrome that also includes the following genes: BRAF SOS1 CBL SHOC2 KAT6B SPRED1 HRAS KRAS LZTR1 MAP2K1

More info about this panel
Estonia.

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel
Spain.

Invitae KAT6B-Related Disorders Test Panel

United States.

By Invitae

This panel specifically test the KAT6B gene.

More info about this panel
United States.

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel
United States.

KAT6B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KAT6B gene.

More info about this panel
United States.

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel
United States.

Arthrogryposes Panel Panel

Finland.

By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B

More info about this panel
Finland.

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel
Finland.

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel
Finland.

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel
Finland.

Oguchi disease-2 Panel

Spain.

By Bioarray

This panel specifically test the KAT6B gene.

More info about this panel
Spain.

Genitopatellar syndrome Panel

Spain.

By Bioarray

This panel specifically test the KAT6B gene.

More info about this panel
Spain.

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.

OHDO BLEFAROFIMOSIS SYNDROME, VARIANT SBBYS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the KAT6B gene.

More info about this panel
Spain.

GENITOPATELLAR SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the KAT6B gene.

More info about this panel
Spain.

Ohdo Syndrome , Sequencing KAT6B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KAT6B gene.

More info about this panel
Spain.

Genitopatellar Syndrome, Sequencing KAT6B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KAT6B gene.

More info about this panel
Spain.

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.

KAT6B-Related Disorders: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the KAT6B gene.

More info about this panel
Canada.

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