ANKRD11 gene related symptoms and diseases

All the information presented here about the ANKRD11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ANKRD11 gene

Symptoms // Phenotype % Cases
Intellectual disability, moderate Very Common - Between 80% and 100% cases
Ventricular septal defect Very Common - Between 80% and 100% cases
Autistic behavior Very Common - Between 80% and 100% cases
Smooth philtrum Very Common - Between 80% and 100% cases
Autism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ANKRD11 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Triangular face
  • Hip dysplasia
  • Protruding ear
  • Kyphosis
  • Seizures
  • Anteverted nares
  • Long philtrum
  • Global developmental delay

And 94 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ANKRD11 gene

Here you will find a list of rare diseases related to the ANKRD11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


KBG SYNDROME


Alternate names

KBG SYNDROME Is also known as short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome, macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies

Description

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.

Most common symptoms of KBG SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about KBG SYNDROME

SOURCES: MESH ORPHANET OMIM

16Q24.3 MICRODELETION SYNDROME


Alternate names

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3, del(16)(q24.3)

Description

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

Most common symptoms of 16Q24.3 MICRODELETION SYNDROME

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


More info about 16Q24.3 MICRODELETION SYNDROME

SOURCES: ORPHANET


Potential gene panels for ANKRD11 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A

More info about this panel

Coffin-Siris Syndrome Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Coffin-Siris Syndrome Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 BTD HDAC8 ADNP

More info about this panel

Autism Spectrum Disorders 53-Gene Panel Panel

United States.

By Center for Human Genetics, Inc Autism Spectrum Disorders 53-Gene Panel that also includes the following genes: RPL10 SYN1 SYNGAP1 TSPAN7 PCDH10 CNTNAP2 SH3KBP1 CACNA1H PCDH19 NLGN4X

More info about this panel

Cornelia de Lange Syndrome PLUS Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cornelia de Lange Syndrome PLUS Sequencing Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8

More info about this panel

Coffin-Siris syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Sequencing Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11

More info about this panel

Coffin-Siris syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Deletion/Duplication Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11

More info about this panel

Cornelia de Lange PLUS Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cornelia de Lange PLUS Deletion/Duplication Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8

More info about this panel

ANKRD11 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ANKRD11 gene.

More info about this panel

AutismNext Panel

United States.

By Ambry Genetics AutismNext that also includes the following genes: SCN2A SLC6A8 SLC9A6 SMC1A CDKL5 SYNGAP1 TBR1 TCF4 MED12 TSC1

More info about this panel

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

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

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

ANKRD11. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ANKRD11 gene.

More info about this panel

Cornelia de Lange Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Seq Analysis that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21

More info about this panel

Cornelia de Lange Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Seq + Del/Dup Panel that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21

More info about this panel

Cornelia de Lange Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Del/Dup Panel that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21

More info about this panel

KBG syndrome (sequence analysis of ANKRD11 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ANKRD11 gene.

More info about this panel

Cornelia de Lange Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21

More info about this panel

Cornelia de Lange Syndrome via ANKRD11 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ANKRD11 gene.

More info about this panel

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8

More info about this panel

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

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Cornelia de Lange syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cornelia de Lange syndrome Comprehensive panel that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21

More info about this panel

Cornelia de Lange syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cornelia de Lange syndrome Deletion / Duplication panel that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21

More info about this panel

Cornelia de Lange syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Cornelia de Lange syndrome NGS panel that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21

More info about this panel

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

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

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

KBG syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ANKRD11 gene.

More info about this panel

Cornelia de Lange Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cornelia de Lange Syndrome that also includes the following genes: SMC1A TAF6 HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21

More info about this panel

Autism Spectrum Disorders Panel

Estonia.

By Asper Biogene Asper Biogene LLC Autism Spectrum Disorders that also includes the following genes: RPL10 SCN1A SCN2A BRAF SLC6A4 SLC6A8 CDKL5 MED12 TSC1 TSC2

More info about this panel

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

Invitae KBG Syndrome Test Panel

United States.

By Invitae

This panel specifically test the ANKRD11 gene.

More info about this panel

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2

More info about this panel

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

ANKRD11 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ANKRD11 gene.

More info about this panel

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

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

KBG SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ANKRD11 gene.

More info about this panel

KBG Syndrome , Sequencing ANKRD11 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ANKRD11 gene.

More info about this panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel


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