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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in ANKRD11

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

ANKRD11 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ANKRD11 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to ANKRD11 gene

KBG SYNDROME

Alternate names

Description

Most common symptoms of KBG SYNDROME

16Q24.3 MICRODELETION SYNDROME

Alternate names

Description

Most common symptoms of 16Q24.3 MICRODELETION SYNDROME

Search interest in ANKRD11

Potential gene panels for ANKRD11 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel

Coffin-Siris Syndrome Panel Panel

Autism Spectrum Disorders 53-Gene Panel Panel

Cornelia de Lange Syndrome PLUS Sequencing Panel Panel

Coffin-Siris syndrome Sequencing Panel Panel

Coffin-Siris syndrome Deletion/Duplication Panel Panel

Cornelia de Lange PLUS Deletion/Duplication Panel Panel

ANKRD11 Gene Sequencing Panel

AutismNext Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

ANKRD11. Complete sequencing Panel

Cornelia de Lange Seq Analysis Panel

Cornelia de Lange Seq + Del/Dup Panel Panel

Cornelia de Lange Del/Dup Panel Panel

KBG syndrome (sequence analysis of ANKRD11 gene) Panel

Cornelia de Lange Syndrome Sequencing Panel with CNV Detection Panel

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

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

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Cornelia de Lange syndrome Comprehensive panel Panel

Cornelia de Lange syndrome Deletion / Duplication panel Panel

Cornelia de Lange syndrome NGS panel Panel

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

AllNeuro panel Panel

KBG syndrome Panel

Cornelia de Lange Syndrome Panel

Autism Spectrum Disorders Panel

qGenEx Craniofacial Anomalies Panel

Invitae KBG Syndrome Test Panel

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

Autism NGS Panel Panel

ANKRD11 Panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

KBG SYNDROME Panel

KBG Syndrome , Sequencing ANKRD11 Gene Panel

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