KCNJ11 gene related symptoms and diseases
All the information presented here about the KCNJ11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KCNJ11 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hyperglycemia | Uncommon - Between 30% and 50% cases |
| Diabetes mellitus | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Type II diabetes mellitus | Uncommon - Between 30% and 50% cases |
| Prominent metopic ridge | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with KCNJ11 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Downturned corners of mouth
- Bilateral ptosis
- Insulin resistance
- Vomiting
- Dehydration
- Transient neonatal diabetes mellitus
- Coma
- Maternal diabetes
And 96 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KCNJ11 gene
Here you will find a list of rare diseases related to the KCNJ11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TRANSIENT NEONATAL DIABETES MELLITUS
Alternate names
TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3, tndm
Description
Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.
Most common symptoms of TRANSIENT NEONATAL DIABETES MELLITUS
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Failure to thrive
More info about TRANSIENT NEONATAL DIABETES MELLITUS
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2
Alternate names
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 Is also known as mody, glucokinase-related, mody, type 2
Description
MODY is a form of NIDDM (OMIM ) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see {606391}.In a review of the various forms of MODY, Fajans et al. (2001) stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by Froguel et al. (1991). Gidh-Jain et al. (1993) found that GCK mutations accounted for 56% of MODY families in France.
Most common symptoms of MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2
- Type II diabetes mellitus
- Hyperglycemia
- Glucose intolerance
- Maternal diabetes
- Maturity-onset diabetes of the young
More info about MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2
SOURCES: OMIM
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13
Alternate names
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13 Is also known as mody, type 13
Most common symptoms of MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13
- Diabetes mellitus
- Type II diabetes mellitus
- Glucose intolerance
- Maternal diabetes
- Maturity-onset diabetes of the young
More info about MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13
SOURCES: OMIM
MODY
Alternate names
MODY Is also known as maturity-onset diabetes of the young, mason-type diabetes
Description
MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
Most common symptoms of MODY
- Hypertension
- Diabetes mellitus
- Retinopathy
- Type II diabetes mellitus
- Insulin resistance
More info about MODY
CONGENITAL ISOLATED HYPERINSULINISM
Alternate names
CONGENITAL ISOLATED HYPERINSULINISM Is also known as persistent hyperinsulinemic hypoglycemia of infancy, hyperinsulinism, congenital, nesidioblastosis, hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia, hyperinsulinemic hypoglycemia, persistent, chi, hyperinsulinism, familial, phhi, hyperinsulinis
Description
Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms).
Most common symptoms of CONGENITAL ISOLATED HYPERINSULINISM
- Neoplasm
- Vomiting
- Diarrhea
- Hypoglycemia
- Postural instability
More info about CONGENITAL ISOLATED HYPERINSULINISM
PERMANENT NEONATAL DIABETES MELLITUS
Alternate names
PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy, pndm
Description
Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
Most common symptoms of PERMANENT NEONATAL DIABETES MELLITUS
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Ataxia
- Failure to thrive
More info about PERMANENT NEONATAL DIABETES MELLITUS
SOURCES: ORPHANET
DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
Alternate names
DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy, pdmi
Description
Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.
Most common symptoms of DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
- Muscle weakness
More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
Alternate names
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM Is also known as noninsulin-dependent diabetes mellitus, maturity-onset diabetes, diabetes mellitus, type ii, t2d
Most common symptoms of DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
- Diabetes mellitus
- Type II diabetes mellitus
- Insulin resistance
- Type I diabetes mellitus
- Hyperinsulinemia
More info about DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY
Alternate names
AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as dominant katp hyperinsulinism due to kir6.2 deficiency, autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency
Description
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).
Most common symptoms of AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY
- Seizures
- Global developmental delay
- Microcephaly
- Cognitive impairment
- Hepatomegaly
More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY
SOURCES: ORPHANET
DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY
Alternate names
DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to kir6.2 deficiency, diazoxide-resistant focal form
More info about DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY
SOURCES: ORPHANET
AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY
Alternate names
AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as autosomal recessive hyperinsulinemic hypoglycemia due to kir6.2 deficiency
More info about AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY
SOURCES: ORPHANET
INTERMEDIATE DEND SYNDROME
Alternate names
INTERMEDIATE DEND SYNDROME Is also known as developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form
Description
Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.
More info about INTERMEDIATE DEND SYNDROME
SOURCES: ORPHANET
Search interest in KCNJ11
Potential gene panels for KCNJ11 gene
Congenital Hyperinsulinism Evaluation Panel
United States.
By Athena Diagnostics Inc Congenital Hyperinsulinism Evaluation that also includes the following genes: GCK GLUD1 ABCC8 KCNJ11
More info about this panel United States.
KCNJ11 (NDM) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the KCNJ11 gene.
More info about this panel United States.
Neonatal Diabetes Mellitus Evaluation Panel
United States.
By Athena Diagnostics Inc Neonatal Diabetes Mellitus Evaluation that also includes the following genes: GCK ABCC8 INS PDX1 KCNJ11
More info about this panel United States.
KCNJ11 (CH) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the KCNJ11 gene.
More info about this panel United States.
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 United States.
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SIK1
More info about this panel United States.
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Maturity-Onset Diabetes of the Young Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Maturity-Onset Diabetes of the Young that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 IER3IP1 RFX6 CP
More info about this panel United States.
Level 1: Congenital Hyperinsulinisim Panel Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Level 1: Congenital Hyperinsulinisim Panel that also includes the following genes: GCK GLUD1 ABCC8 KCNJ11
More info about this panel United States.
Level 2: Expanded Congenital Hyperinsulinism Panel Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Level 2: Expanded Congenital Hyperinsulinism Panel that also includes the following genes: SLC16A1 GCK GLUD1 HADH ABCC8 KCNJ11
More info about this panel United States.
Maturity-onset Diabetes of the Young Panel Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Maturity-onset Diabetes of the Young Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL AKT2 GCK HNF4A ABCC8 INS
More info about this panel United States.
MODY Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago MODY Deletion/Duplication Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL APPL1 GCK HNF4A ABCC8 INS
More info about this panel United States.
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panel United States.
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panel United States.
Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism Panel
United States.
By Genetic Services Laboratory University of Chicago Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism that also includes the following genes: GCK ABCC8 KCNJ11
More info about this panel United States.
KCNJ11 deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the KCNJ11 gene.
More info about this panel United States.
KCNJ11 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the KCNJ11 gene.
More info about this panel United States.
KCNJ11 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the KCNJ11 gene.
More info about this panel United States.
Comprehensive Neonatal Diabetes Mutation Analysis Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Neonatal Diabetes Mutation Analysis that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 HYMAI ABCC8 INS FOXP3
More info about this panel United States.
Comprehensive Familial Hyperinsulinism Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Familial Hyperinsulinism Panel that also includes the following genes: SLC16A1 HNF1A UCP2 KDM6A GCK GLUD1 HADH HNF4A ABCC8 INSR
More info about this panel United States.
MODY Panel Panel
United States.
By Genetic Services Laboratory University of Chicago MODY Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL APPL1 GCK HNF4A ABCC8 INS
More info about this panel United States.
Neonatal Diabetes Mellitus Deletion/Duplication Analysis Panel
United States.
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Deletion/Duplication Analysis that also includes the following genes: ZFP57 EIF2AK3 GCK ABCC8 INS FOXP3 PDX1 KCNJ11
More info about this panel United States.
Neonatal Diabetes Mellitus Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Sequencing Panel that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 ABCC8 INS FOXP3 PDX1
More info about this panel United States.
Epilepsy Panel - Comprehensive Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5
More info about this panel Argentina.
KCNJ11 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the KCNJ11 gene.
More info about this panel Netherlands.
KCNJ11. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
KCNJ11. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
Permanent neonatal diabetes mellitus (deletion/duplication analysis of KCNJ11 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KCNJ11 gene.
More info about this panel Portugal.
Hyperinsulinemic hypoglycemia, familial, 2 (deletion/duplication analysis of KCNJ11 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KCNJ11 gene.
More info about this panel Portugal.
Hyperinsulinemic hypoglycemia, familial, 2 (sequence analysis of KCNJ11 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KCNJ11 gene.
More info about this panel Portugal.
Permanent neonatal diabetes mellitus (sequence analysis of KCNJ11 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KCNJ11 gene.
More info about this panel Portugal.
MODY (NGS panel for 13 genes) Panel
Portugal.
By CGC Genetics MODY (NGS panel for 13 genes) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A ABCC8 INS PDX1
More info about this panel Portugal.
Diabetes mellitus permanent neonatal (NGS panel for 13 genes) Panel
Portugal.
By CGC Genetics Diabetes mellitus permanent neonatal (NGS panel for 13 genes) that also includes the following genes: SLC19A2 HNF1B IER3IP1 RFX6 PTF1A GLIS3 GATA6 GCK ABCC8 INS
More info about this panel Portugal.
Familial hyperinsulinism (NGS panel of 9 genes) Panel
Portugal.
By CGC Genetics Familial hyperinsulinism (NGS panel of 9 genes) that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11
More info about this panel Portugal.
Familial hyperinsulinism (NGS panel of 9 genes) Panel
Portugal.
By CGC Genetics Familial hyperinsulinism (NGS panel of 9 genes) that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11
More info about this panel Portugal.
Islet cell hyperplasia Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the KCNJ11 gene.
More info about this panel Germany.
Permanent neonatal diabetes mellitus Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Permanent neonatal diabetes mellitus that also includes the following genes: GCK ABCC8 INS KCNJ11
More info about this panel Germany.
Transient neonatal diabetes mellitus 3 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the KCNJ11 gene.
More info about this panel Germany.
Permanent neonatal diabetes mellitus Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Permanent neonatal diabetes mellitus that also includes the following genes: GCK ABCC8 INS KCNJ11
More info about this panel Germany.
Neonatal Diabetes Mellitus Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Neonatal Diabetes Mellitus that also includes the following genes: ZFP57 GCK ABCC8 INS PDX1 KCNJ11
More info about this panel Germany.
KCNJ11-Related Hyperinsulinism Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the KCNJ11 gene.
More info about this panel United Kingdom.
Congenital Hyperinsulinism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Hyperinsulinism Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 KCNJ11
More info about this panel United States.
KCNJ11-Related Congenital Hyperinsulinism via KCNJ11 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the KCNJ11 gene.
More info about this panel United States.
Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection that also includes the following genes: BLK HNF1A HNF1B KLF11 APPL1 GCK HNF4A ABCC8 INS PDX1
More info about this panel United States.
KCNJ11 Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the KCNJ11 gene.
More info about this panel Slovakia.
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.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
KCNJ11-Related Hyperinsulinism Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the KCNJ11 gene.
More info about this panel Germany.
Neonatal Diabetes Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Neonatal Diabetes that also includes the following genes: GCK ABCC8 KCNJ11
More info about this panel Germany.
Hyperinsulinism Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Hyperinsulinism that also includes the following genes: GCK GLUD1 ABCC8 KCNJ11
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.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Diabetes mellitus noninsulin-dependent Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KCNJ11 gene.
More info about this panel Germany.
Diabetes mellitus transient neonatal 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KCNJ11 gene.
More info about this panel Germany.
Hyperinsulinemic hypoglycemia familial 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KCNJ11 gene.
More info about this panel Germany.
ABCC8-Related Hyperinsulinism Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum ABCC8-Related Hyperinsulinism that also includes the following genes: GCK GLUD1 HADH HNF4A ABCC8 PDX1 KCNJ11
More info about this panel Germany.
Maturity Onset Diabetes of the Young (MODY) Panel
Estonia.
By Asper Biogene Asper Biogene LLC Maturity Onset Diabetes of the Young (MODY) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8
More info about this panel Estonia.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Maturity-onsetdiabetes of the youngMODY Panel
Spain.
By Health in Code Maturity-onsetdiabetes of the youngMODY that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 TBC1D4
More info about this panel Spain.
Dyslipidemias / Early atherosclerosis Panel
Spain.
By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panel Spain.
Diabetes mellitus, permanent neonatal Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the KCNJ11 gene.
More info about this panel Austria.
Diabetes mellitus, permanent neonatal Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the KCNJ11 gene.
More info about this panel Austria.
Hyperinsulinemic hypoglycemia, familial, 2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the KCNJ11 gene.
More info about this panel Austria.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Diabetes mellitus, permanent neonatal Panel
Slovakia.
By MedGene
This panel specifically test the KCNJ11 gene.
More info about this panel Slovakia.
Diabetes mellitus, permanent neonatal Panel
Slovakia.
By MedGene
This panel specifically test the KCNJ11 gene.
More info about this panel Slovakia.
Hyperinsulinemic hypoglycemia, familial, 2 Panel
Slovakia.
By MedGene
This panel specifically test the KCNJ11 gene.
More info about this panel Slovakia.
Diabetes mellitus, Permanent neonatal: KCNJ11 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
Hyperinsulinemic-hypoglycemia type 2, Familial: KCNJ11 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
DIABETES (MODY) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DIABETES (MODY) that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 GCK HNF4A PDX1 KCNJ11 NEUROD1
More info about this panel Spain.
Diabetes mellitus, neonatal permanent Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Diabetes mellitus, neonatal permanent that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK
More info about this panel Spain.
FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA that also includes the following genes: SLC16A1 SLC25A15 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR
More info about this panel Spain.
Epilepsy and Seizure Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Endocrine Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panel United States.
Endocrine Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panel United States.
Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Diabetes-Obesity NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL
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.
Hyperinsulinism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hyperinsulinism NGS Panel that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INS INSR PDX1
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
MODY Neonatal Diabetes NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
KCNJ11 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KCNJ11 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.
MODY Panel Panel
Finland.
By Blueprint Genetics MODY Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 RFX6 GCK HNF4A ABCC8 INS PDX1
More info about this panel Finland.
Comprehensive Monogenic Diabetes Panel Panel
Finland.
By Blueprint Genetics Comprehensive Monogenic Diabetes Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 ZFP57
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
Finland.
By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3
More info about this panel Finland.
Diabetes mellitus, transient neonatal, 3 Panel
Spain.
By Bioarray
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
Permanent neonatal diabetes mellitus Panel
Spain.
By Bioarray
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
Familial Hyperinsulinism NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Hyperinsulinism NGS and Deletion/Duplication Panel that also includes the following genes: SLC16A1 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11
More info about this panel United States.
KCNJ11 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the KCNJ11 gene.
More info about this panel United States.
Maturity-Onset Diabetes of the Young NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Maturity-Onset Diabetes of the Young NGS and Deletion/Duplication Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A ABCC8 INS PDX1
More info about this panel United States.
Monogenic Diabetes NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Monogenic Diabetes NGS and Deletion/Duplication Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 CEL
More info about this panel United States.
DIABETES MELLITUS, NEONATAL Panel
Spain.
By Laboratorio de Genetica Clinica SL DIABETES MELLITUS, NEONATAL that also includes the following genes: ABCC8 KCNJ11
More info about this panel Spain.
FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) that also includes the following genes: GCK GLUD1 INSR KCNJ11
More info about this panel Spain.
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 13 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
NESIDIOBLASTOSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
DIABETES MODY & NEONATAL DIABETES : NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DIABETES MODY & NEONATAL DIABETES : NGS PANEL that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 NEUROG3 IER3IP1 ZFP57 RFX6 PTF1A
More info about this panel Spain.
FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) NGS PANEL that also includes the following genes: SLC16A1 GCK GLUD1 HADH ABCC8 INSR KCNJ11
More info about this panel Spain.
Permanent Neonatal Diabetes Mellitus, Sequencing KCNJ11 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
Transient Neonatal Diabetes Mellitus Type 3 , Sequencing KCNJ11 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
Familial Hypoglycemia Hyperinsulinemia Type 2 , Sequencing KCNJ11 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
Permanent Neonatal Diabetes Mellitus , Deletions-Duplications (MLPA) KCNJ11 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the KCNJ11 gene.
More info about this panel Spain.
Diabetes MODY, Panel Massive Sequencing (NGS) 11 Genes Panel
Spain.
By Reference Laboratory Genetics Diabetes MODY, Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 GCK HNF4A PDX1 KCNJ11 NEUROD1
More info about this panel Spain.
Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes Panel
Spain.
By Reference Laboratory Genetics Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK
More info about this panel Spain.
Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SLC16A1 SLC25A15 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR
More info about this panel Spain.
Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC16A1 GCK GLUD1 HADH ABCC8 INSR KCNJ11
More info about this panel Spain.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
Permanent Neonatal Diabetes Mellitus: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Permanent Neonatal Diabetes Mellitus: gene sequencing panel that also includes the following genes: GCK ABCC8 INS PDX1 KCNJ11
More info about this panel Canada.
Familial Hyperinsulinism: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Hyperinsulinism: gene sequencing panel that also includes the following genes: UCP2 GCK GLUD1 HADH HNF4A ABCC8 KCNJ11
More info about this panel Canada.
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