NSD1 gene related symptoms and diseases

All the information presented here about the NSD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NSD1 gene

Symptoms // Phenotype % Cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NSD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Macrotia
  • Dolichocephaly
  • Tall stature
  • Accelerated skeletal maturation
  • Coarse facial features
  • Mandibular prognathia
  • Behavioral abnormality
  • Vesicoureteral reflux

And 191 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NSD1 gene

Here you will find a list of rare diseases related to the NSD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SOTOS SYNDROME


Alternate names

SOTOS SYNDROME Is also known as cerebral gigantism

Description

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Most common symptoms of SOTOS SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism


More info about SOTOS SYNDROME

SOURCES: ORPHANET

WEAVER SYNDROME


Alternate names

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Description

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

Most common symptoms of WEAVER SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


More info about WEAVER SYNDROME

SOURCES: ORPHANET

SOTOS SYNDROME 1; SOTOS1


Alternate names

SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome, sotos syndrome, cerebral gigantism

Most common symptoms of SOTOS SYNDROME 1; SOTOS1

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


More info about SOTOS SYNDROME 1; SOTOS1

SOURCES: OMIM

LEUKEMIA, ACUTE MYELOID; AML


Alternate names

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Most common symptoms of LEUKEMIA, ACUTE MYELOID; AML

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


More info about LEUKEMIA, ACUTE MYELOID; AML

SOURCES: OMIM ORPHANET

MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


Description

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Most common symptoms of MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

SOURCES: MESH OMIM

DELETION 5Q35


Alternate names

DELETION 5Q35 Is also known as telomeric deletion 5q, distal 5q deletion, del (5)(qter), del (5)(q35), monosomy 5q35

Description

Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.


More info about DELETION 5Q35

SOURCES: ORPHANET

5Q35 MICRODUPLICATION SYNDROME


Alternate names

5Q35 MICRODUPLICATION SYNDROME Is also known as dup(5)(q35), trisomy 5q35

Description

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.

Most common symptoms of 5Q35 MICRODUPLICATION SYNDROME

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


More info about 5Q35 MICRODUPLICATION SYNDROME

SOURCES: ORPHANET

BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION


Most common symptoms of BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

  • Scoliosis
  • Ptosis
  • Epicanthus
  • Macrotia
  • Umbilical hernia


More info about BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

SOURCES: ORPHANET


Potential gene panels for NSD1 gene

PreSeek Non-invasive Prenatal Gene Sequencing Screen Panel

United States.

By Baylor Miraca Genetics Laboratories PreSeek Non-invasive Prenatal Gene Sequencing Screen that also includes the following genes: RIT1 BRAF SMC1A SOS1 SOS2 CDKL5 SYNGAP1 TSC1 TSC2 HDAC8

More info about this panel

Syndromic Autism Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1

More info about this panel

NGS Overgrowth/Macrocephaly Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Overgrowth/Macrocephaly Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 UPF3B RNF135 CUL4B DNMT3A EZH2 GLI3

More info about this panel

Sotos Syndrome Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the NSD1 gene.

More info about this panel

Sotos Syndrome (NSD1) Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the NSD1 gene.

More info about this panel

Comprehensive Brain Malformation Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8

More info about this panel

Macrocephaly Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Macrocephaly that also includes the following genes: MED12 NSD1 PHF6 UPF3B CUL4B EZH2 GLI3 NFIX PIK3CA PTCH1

More info about this panel

Sotos syndrome Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the NSD1 gene.

More info about this panel

Macrocephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Macrocephaly Deletion/Duplication Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135

More info about this panel

NSD1 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the NSD1 gene.

More info about this panel

NSD1 Mutation Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the NSD1 gene.

More info about this panel

NSD1 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the NSD1 gene.

More info about this panel

Macrocephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Macrocephaly Sequencing Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135

More info about this panel

Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1

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

NSD1. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NSD1 gene.

More info about this panel

NSD1. Sequencing of the exon 6 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NSD1 gene.

More info about this panel

NSD1. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NSD1 gene.

More info about this panel

NSD1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NSD1 gene.

More info about this panel

Sotos syndrome (deletion/duplication analysis on NSD1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NSD1 gene.

More info about this panel

Weaver syndrome (sequence analysis of NSD1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NSD1 gene.

More info about this panel

Sotos syndrome (sequence analysis of NSD1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NSD1 gene.

More info about this panel

Macrocephaly (NGS panel for 16 genes) Panel

Portugal.

By CGC Genetics Macrocephaly (NGS panel for 16 genes) that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA

More info about this panel

Weaver syndrome (deletion/duplication analysis of NSD1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NSD1 gene.

More info about this panel

OncoRisk (NGS panel for 48 genes) Panel

Portugal.

By CGC Genetics OncoRisk (NGS panel for 48 genes) that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Sotos Syndrome via NSD1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NSD1 gene.

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

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

Overgrowth syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Overgrowth syndrome NGS panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB

More info about this panel

Overgrowth syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Overgrowth syndrome Comprehensive panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB

More info about this panel

Overgrowth syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Overgrowth syndrome Deletion / Duplication panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB

More info about this panel

Sotos syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Sotos syndrome and related disorders Comprehensive panel that also includes the following genes: NSD1 APC2 EZH2 NFIX

More info about this panel

Sotos syndrome and related disorders Deletion/Duplication panel Panel

United States.

By Connective Tissue Gene Tests Sotos syndrome and related disorders Deletion/Duplication panel that also includes the following genes: NSD1 APC2 EZH2 NFIX

More info about this panel

Sotos syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Sotos syndrome and related disorders NGS panel that also includes the following genes: NSD1 APC2 EZH2 NFIX

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

Macrocephaly Panel

Germany.

By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C

More info about this panel

Sotos Syndrome Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the NSD1 gene.

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

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

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

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Sotos syndrome Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München

This panel specifically test the NSD1 gene.

More info about this panel

Beckwith-Wiedemann syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NSD1 gene.

More info about this panel

Sotos syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NSD1 gene.

More info about this panel

Weaver syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NSD1 gene.

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

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

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

Macrocephaly Panel Panel

Germany.

By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3

More info about this panel

Selected Genetic Syndromes with Seizures Panel Panel

Germany.

By CeGaT GmbH Selected Genetic Syndromes with Seizures Panel that also includes the following genes: SMARCA2 MED12 TSC1 TSC2 KDM6A NSD1 ZEB2 VPS13A PIGO GNE

More info about this panel

Macrocephaly Panel Panel

Germany.

By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3

More info about this panel

Single gene testing NSD1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the NSD1 gene.

More info about this panel

Sotos syndrome 1 (NSD1) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the NSD1 gene.

More info about this panel

Sotos syndrome 1 (NSD1) MLPA Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the NSD1 gene.

More info about this panel

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

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

Sotos syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the NSD1 gene.

More info about this panel

Weaver syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the NSD1 gene.

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

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

Weaver syndrome Panel

Slovakia.

By MedGene

This panel specifically test the NSD1 gene.

More info about this panel

Sotos syndrome Panel

Slovakia.

By MedGene

This panel specifically test the NSD1 gene.

More info about this panel

Invitae Congenital Heart Defects and Heterotaxy Panel Panel

United States.

By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298

More info about this panel

Invitae Congenital Heart Disease Panel Panel

United States.

By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL

More info about this panel

Invitae Sotos Syndrome Test Panel

United States.

By Invitae

This panel specifically test the NSD1 gene.

More info about this panel

Invitae Overgrowth and Macrocephaly Syndromes Panel Panel

United States.

By Invitae Invitae Overgrowth and Macrocephaly Syndromes Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 SETD2 SPRED1 CUL4B DIS3L2 DNMT3A EZH2

More info about this panel

Sotos syndrome: NSD1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NSD1 gene.

More info about this panel

Sotos syndrome: NSD1 gene deletions analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NSD1 gene.

More info about this panel

ONCOLOGY, PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4

More info about this panel

Overgrowth syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Overgrowth syndrome that also includes the following genes: NSD1 EZH2 GPC3 GPC4 NFIX

More info about this panel

Sotos Syndrome: NSD1 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the NSD1 gene.

More info about this panel

Sotos Syndrome: NSD1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the NSD1 gene.

More info about this panel

Autism Spectrum Disorders: Tier 2 Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12

More info about this panel

Macrocephaly: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Macrocephaly: Sequencing Panel that also includes the following genes: MED12 NSD1 PHF6 UPF3B CUL4B EZH2 GLI3 GPC3 NFIX PTCH1

More info about this panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12

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

NSD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NSD1 gene.

More info about this panel

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

Hereditary Pediatric Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Autism Spectrum Disorders Panel Panel

Finland.

By Blueprint Genetics Autism Spectrum Disorders Panel that also includes the following genes: RPL10 TCF20 TRIP12 TSC1 TSC2 BCL11A CACNA1C NSD1 NLGN4X NLGN3

More info about this panel

Congenital Structural Heart Disease Panel Panel

Finland.

By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB

More info about this panel

Macrocephaly / Overgrowth Syndrome Panel Panel

Finland.

By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C

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

Sotos syndrome Panel

Spain.

By Bioarray

This panel specifically test the NSD1 gene.

More info about this panel

Hematopoietic Disorders Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1

More info about this panel

Head & Neck Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 TGFBR2 TP53 KDM6A KMT2C NSD1 CCND1 FBXW7 CDKN2A

More info about this panel

Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel that also includes the following genes: NSD1 CDKN1C TMCO1 SETD2 RNF135 DIS3L2 DNMT3A EZH2 GPC3 NFIX

More info about this panel

NSD1 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 NSD1 gene.

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Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

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High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

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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

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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

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SOTOS SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the NSD1 gene.

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WEAVER SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL WEAVER SYNDROME that also includes the following genes: NSD1 EZH2

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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

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Sotos Syndrome, Sequencing NSD1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NSD1 gene.

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Sotos Syndrome, Deletion (MLPA) NSD1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NSD1 gene.

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Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

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Beckwith-Wiedemann Syndrome , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Beckwith-Wiedemann Syndrome , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: NSD1 CDKN1C H19 KCNQ1OT1

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Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes Panel

Spain.

By Reference Laboratory Genetics Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes that also includes the following genes: RUNX1 SH3GL1 TERC TERT TP53 WT1 NSD1 CBFB PICALM ASXL1

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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

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Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes Panel

Spain.

By Reference Laboratory Genetics Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA

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Sotos syndrome 1 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the NSD1 gene.

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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

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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

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