Noonan Syndrome-like Disorder With Loose Anagen Hair 2; Nslh2

Description

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

Clinical Features

Top most frequent phenotypes and symptoms related to Noonan Syndrome-like Disorder With Loose Anagen Hair 2; Nslh2

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Failure to thrive
  • Ptosis
  • Cryptorchidism
  • Low-set ears
And another 61 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Noonan Syndrome-like Disorder With Loose Anagen Hair 2; Nslh2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Rasopathy NextGen Panel.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, ACTB, ACTG1, LZTR1, SPRED1, RASA2, RRAS, A2ML1 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Noonan spectrum disorder Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, NF2, NF1, ACTB, ACTG1, LZTR1, SPRED1, CABIN1 , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
100 %
Noonan spectrum disorder Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, NF2, NF1, ACTB, ACTG1, LZTR1, SPRED1, CABIN1 , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
100 %
Noonan spectrum disorder NGS panel.

By Connective Tissue Gene Tests in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, NF2, NF1, ACTB, ACTG1, LZTR1, SPRED1, CABIN1 , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
100 %
PPP1CB.

By Fulgent Genetics Fulgent Genetics in United States.

PPP1CB
Specificity
100 %
Genes
50 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
2 %
Genes
100 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

ELN, PITX2, JAG1, BCOR, CHD7, DHCR7, HRAS, SOS2, CBL, NSD1, GPC3, ENG, NF1, FLNA, TBX1, ACTB, ACTG1, HOXA1, RBM10, NODAL , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
2 %
Genes
100 %
Noonan Syndrome Panel.

By Blueprint Genetics in Finland.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, NF1, ACTB, ACTG1, LZTR1, SPRED1, NSUN2, RASA2 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
SHOC2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SHOC2
Specificity
100 %
Genes
50 %
SHOC2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

SHOC2
Specificity
100 %
Genes
50 %
SHOC2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SHOC2
Specificity
100 %
Genes
50 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories in United States.

COL1A1, COL1A2, JAG1, RAF1, MECP2, FGFR3, BRAF, CDKL5, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
50 %
NGS RASopathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, NF2, NF1, LZTR1, KAT6B, SPRED1, CABIN1, NSUN2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

TTR, AGL, ACADVL, GAA, DSP, CRYAB, RAF1, MTO1, TMEM70, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Noonan-like syndrome (SHOC2).

By Center for Human Genetics, Inc in United States.

SHOC2
Specificity
100 %
Genes
50 %
Noonan Syndrome 11-Gene Sequencing Panel.

By Center for Human Genetics, Inc in United States.

RAF1, BRAF, KRAS, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, CBL, LZTR1
Specificity
10 %
Genes
50 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
50 %
Noonan Syndrome Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, SPRED1
Specificity
9 %
Genes
50 %
Noonan like syndrome with loose anagen hair.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

SHOC2
Specificity
100 %
Genes
50 %
Noonan Spectrum Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NF1, SPRED1
Specificity
8 %
Genes
50 %
Noonan Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NF1
Specificity
8 %
Genes
50 %
Noonan Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1
Specificity
9 %
Genes
50 %
Expanded RASopathy Panel (14 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NF1, SPRED1
Specificity
8 %
Genes
50 %
Noonan Spectrum Disorders Panel, Sequencing, 15 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, KAT6B, RAB40AL, SPRED1
Specificity
7 %
Genes
50 %
Noonan Spectrum Disorders Panel.

By GeneDx in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL
Specificity
10 %
Genes
50 %
Noonan-Like Syndrome with Loose Anagen Hair.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

SHOC2
Specificity
100 %
Genes
50 %
Noonan syndrome/RASopathy Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL
Specificity
10 %
Genes
50 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

RAF1, ALG8, MPI, PMM2, BRAF, GJC2, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MET, GATA2, RELN, HGF , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
SHOC2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SHOC2
Specificity
100 %
Genes
50 %
PTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, HRAS, SPRED1, SHOC2, CBL, MAP2K1, MAP2K2. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RAF1, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, SPRED1
Specificity
10 %
Genes
50 %
Noonan Syndrome-like Disorder with Loose Anagin Hair.

By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine. in Spain.

SHOC2
Specificity
100 %
Genes
50 %
Noonan Spectrum Panel - PTPN11, RAF1, SOS1, KRAS, BRAF, HRAS, NRAS, CBL, SHOC2, MAP2K1, MAP2K2, and SPRED1 Next Generation Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, SPRED1
Specificity
9 %
Genes
50 %
Noonan Syndrome with Loose Anagen Hair - SHOC2 Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SHOC2
Specificity
100 %
Genes
50 %
Noonan Syndrome Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, SPRED1
Specificity
9 %
Genes
50 %
SHOC2-related Noonan-like syndrome with loose anagen hair.

By ChildLab Molecular Genetics Laboratory Nationwide Children's Hospital in United States.

SHOC2
Specificity
100 %
Genes
50 %
Noonan-like syndrome (sequence analysis of SHOC2 gene).

By CGC Genetics in Portugal.

SHOC2
Specificity
100 %
Genes
50 %
Noonan syndrome and rasopathies (NGS panel for 13 genes).

By CGC Genetics in Portugal.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1, SPRED1
Specificity
8 %
Genes
50 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
50 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
50 %
Non-NF1 RASopathy Next Generation Sequencing and Deletion/Duplication.

By Medical Genomics Laboratory Department of Genetics UAB in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, SPRED1, RASA2
Specificity
7 %
Genes
50 %
RASopathy Next Generation Sequencing and Deletion/Duplication.

By Medical Genomics Laboratory Department of Genetics UAB in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, NF1, SPRED1
Specificity
7 %
Genes
50 %
Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, NF1, LZTR1, KAT6B, RASA2, RRAS, A2ML1, SPRY1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Noonan-Like Syndrome with Loose Anagen Hair via the SHOC2 Gene.

By PreventionGenetics PreventionGenetics in United States.

SHOC2
Specificity
100 %
Genes
50 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
50 %
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GNPTAB, GLB1, RAF1, CTSA, GUSB, GALNS, GBA, BRAF, DHCR7, HRAS, IDUA, KRAS, LIPA, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Noonan syndrome core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, LZTR1
Specificity
8 %
Genes
50 %
Noonan syndrome core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, LZTR1
Specificity
8 %
Genes
50 %
Noonan syndrome core NGS panel.

By Connective Tissue Gene Tests in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, LZTR1
Specificity
8 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
50 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
50 %
RASopathies.

By MGZ Medical Genetics Center in Germany.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1, SPRED1, RASA2, RRAS
Specificity
7 %
Genes
50 %
Noonan Syndrome.

By MGZ Medical Genetics Center in Germany.

RAF1, KRAS, NRAS, PTPN11, SHOC2, SOS1, CBL, RASA2, RRAS
Specificity
12 %
Genes
50 %
Congenital heart defects panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ELN, JAG1, RAF1, TAZ, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MYH7, LDB3, MYBPC3, NODAL, FOXH1, MYH11 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Noonan syndrom like.

By Centogene AG - the Rare Disease Company in Germany.

SHOC2
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
RASopathies Panel.

By CeGaT GmbH in Germany.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NF1, RASA1, SPRED1, RASA2, RRAS, A2ML1, STAMBP, PIK3CA , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
RASopathies Panel.

By CeGaT GmbH in Germany.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NF1, RASA1, SPRED1, RASA2, RRAS, A2ML1, STAMBP, PIK3CA , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
RASopathies Panel.

By CeGaT GmbH in Germany.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NF1, RASA1, SPRED1, RASA2, RRAS, A2ML1, STAMBP, PIK3CA , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Noonan Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, KAT6B, SPRED1
Specificity
8 %
Genes
50 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
50 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
50 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
50 %
Rasopathies NGS Panel.

By Health in Code in Spain.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, SPRED1
Specificity
9 %
Genes
50 %
Congenital Heart Diseases Panel.

By Health in Code in Spain.

ELN, EYA4, PITX2, JAG1, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, TTN, MYH7, MYBPC3, FLNA, TBX1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Hypertrophic Cardiomyopathy Extended Panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
50 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
50 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ELN, EYA4, FOXC1, PITX2, JAG1, NPHP4, RAF1, BRAF, CHD7, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
50 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
50 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
RASopathies Panel.

By Health in Code in Spain.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, NF1, LZTR1, SPRED1, RASA2, RRAS, A2ML1
Specificity
6 %
Genes
50 %
RASOPATHY-RELATED SYNDROME.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, NF1, LZTR1, SPRED1, RASA2, RRAS, A2ML1
Specificity
6 %
Genes
50 %
NOONAN SYNDROME.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain.

RAF1, BRAF, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, CBL, NF1, LZTR1, RASA2, RRAS, A2ML1
Specificity
7 %
Genes
50 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae in United States.

INVS, ELN, JAG1, NPHP3, CEP290, TTC8, RAF1, RPGR, CCDC39, BCOR, MKS1, BBS10, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
50 %
Invitae Congenital Heart Disease Panel.

By Invitae in United States.

ELN, JAG1, RAF1, BCOR, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NSD1, GPC3, TBX1 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Invitae Cardio-Facio-Cutaneous Syndrome Panel.

By Invitae in United States.

BRAF, KRAS, MAP2K1, SHOC2, SOS1, MAP2K2
Specificity
17 %
Genes
50 %
Invitae Noonan Syndrome Panel.

By Invitae in United States.

RAF1, BRAF, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, RRAS, A2ML1
Specificity
8 %
Genes
50 %
Invitae RASopathies Comprehensive Panel.

By Invitae in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, NF1, RASA1, SPRED1, RRAS, A2ML1
Specificity
6 %
Genes
50 %
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRKCG, RAF1, IL2RG, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, MET, NF1, SHOX, ANKRD11, SPRED1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Noonan-Like Syndrome with Loose Anagen Hair: SHOC2 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SHOC2
Specificity
100 %
Genes
50 %
Noonan-Like Syndrome with Loose Anagen Hair: SHOC2 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SHOC2
Specificity
100 %
Genes
50 %
Noonan Syndrome and Related Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, SPRED1
Specificity
9 %
Genes
50 %
Noonan Syndrome and Related Conditions Profile.

By Integrated Genetics Westborough Integrated Genetics in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, PTPN11, SHOC2, SOS1, MAP2K2
Specificity
12 %
Genes
50 %
Noonan Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL
Specificity
10 %
Genes
50 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
SHOC2.

By Fulgent Genetics Fulgent Genetics in United States.

SHOC2
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
50 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
50 %
Hereditary Pediatric Cancer Panel.

By Blueprint Genetics in Finland.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, RAF1, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
50 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
50 %
Noonan Syndrome Panel.

By Insight Medical Genetics in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL
Specificity
9 %
Genes
50 %
Noonan-like syndrome with loose anagen hair.

By Bioarray in Spain.

SHOC2
Specificity
100 %
Genes
50 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
CardioGene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, CAV3, TTN, DES, MYH7 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, TTN, DES, MYH7, LDB3 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Hypertrophic Cardiomyopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TTR, RAF1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, MYH7, MYBPC3, LAMP2, ACTC1, MYLK2, TNNC1, TNNI3 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Noonan Syndrome Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

RAF1, BRAF, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, CBL
Specificity
12 %
Genes
50 %
Noonan Syndrome and related disorders (RASopathies) Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL
Specificity
10 %
Genes
50 %
SHOC2 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SHOC2
Specificity
100 %
Genes
50 %
Cardiomyopathy Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

TTR, GAA, PSEN1, DSP, CRYAB, RAF1, TAZ, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
50 %
Noonan-Like Syndrome with Loose Anagen Hair , Sequencing SHOC2 Gene.

By Reference Laboratory Genetics in Spain.

SHOC2
Specificity
100 %
Genes
50 %
Noonan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

RAF1, BRAF, HRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, SPRED1
Specificity
9 %
Genes
50 %
Cardiofaciocutaneous Syndrome , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

BRAF, KRAS, MAP2K1, SHOC2, SOS1, MAP2K2
Specificity
17 %
Genes
50 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, CPT2, RAF1, MTO1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, RAF1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, CAV3, NF1, DES , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %

Alternate names

Noonan Syndrome-like Disorder With Loose Anagen Hair 2; Nslh2 Is also known as ;ns/lah; tosti syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TARP SYNDROME; TARPS HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7

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