Alagille Syndrome 2; Algs2

Clinical Features

Top most frequent phenotypes and symptoms related to Alagille Syndrome 2; Algs2

  • Hypertension
  • Atrial septal defect
  • Renal insufficiency
  • Acidosis
  • Proteinuria
  • Broad forehead
  • Abnormality of the liver
  • Pulmonic stenosis
  • Renal cyst
  • Triangular face
And another 11 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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Alagille Syndrome 2; Algs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cholestasis Panel by next-generation sequencing (NGS).

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

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, CYP7B1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, EPHX1, SLC10A1, NOTCH2, HSD3B7
Specificity
6 %
Genes
100 %
NOTCH2 Sequencing.

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

NOTCH2
Specificity
100 %
Genes
100 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

VHL, INVS, HNF1B, INPP5E, CC2D2A, JAG1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, XPNPEP3, IQCB1, BBS7, BBS5, BBS12 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Alagille Syndrome type 2.

By Human Genetics University Hospital Bern in Switzerland.

NOTCH2
Specificity
100 %
Genes
100 %
NOTCH2. Complete sequencing.

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

NOTCH2
Specificity
100 %
Genes
100 %
NOTCH2. Sequencing of the exons 34.

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

NOTCH2
Specificity
100 %
Genes
100 %
NOTCH2. Complete sequencing.

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

NOTCH2
Specificity
100 %
Genes
100 %
Neonatal Respiratory Distress Del/Dup Panel.

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

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
7 %
Genes
100 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel.

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

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
7 %
Genes
100 %
Neonatal Respiratory Distress Seq Analysis.

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

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
7 %
Genes
100 %
Cholestasis Seq + Del/Dup Panel.

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

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Alagille Syndrome Del/Dup.

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

JAG1, NOTCH2
Specificity
50 %
Genes
100 %
Alagille Syndrome Seq + Del/Dup.

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

JAG1, NOTCH2
Specificity
50 %
Genes
100 %
Comprehensive Pulmonary-Vascular Seq Analysis.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Cholestasis Del/Dup Panel.

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

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Alagille Syndrome Seq.

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

JAG1, NOTCH2
Specificity
50 %
Genes
100 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Alagille syndrome 2 (sequence analysis of NOTCH2 gene).

By CGC Genetics in Portugal.

NOTCH2
Specificity
100 %
Genes
100 %
Alagille Syndrome.

By Exeter Molecular Genetics Laboratory in United Kingdom.

JAG1, NOTCH2
Specificity
50 %
Genes
100 %
Hajdu-Cheney Syndrome.

By Exeter Molecular Genetics Laboratory in United Kingdom.

NOTCH2
Specificity
100 %
Genes
100 %
Alagille Syndrome.

By Exeter Molecular Genetics Laboratory in United Kingdom.

NOTCH2
Specificity
100 %
Genes
100 %
Cholestasis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, CLDN1, NOTCH2, HSD3B7, NR1H4
Specificity
7 %
Genes
100 %
NOTCH2-Related Disorders via the NOTCH2 Gene.

By PreventionGenetics PreventionGenetics in United States.

NOTCH2
Specificity
100 %
Genes
100 %
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCB11, ABCB4, ATP8B1, JAG1, TJP2, NOTCH2
Specificity
17 %
Genes
100 %
Alagille Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

JAG1, NOTCH2
Specificity
50 %
Genes
100 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VHL, INVS, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1, OFD1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Alagille syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

ATP8B1, JAG1, NOTCH2
Specificity
34 %
Genes
100 %
Alagille syndrome Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

ATP8B1, JAG1, NOTCH2
Specificity
34 %
Genes
100 %
Alagille syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ATP8B1, JAG1, NOTCH2
Specificity
34 %
Genes
100 %
Congenital heart disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
100 %
Congenital heart disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
100 %
Congenital heart disease NGS panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
100 %
Polycystic kidney disease and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Polycystic kidney disease and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Polycystic kidney disease and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Alagille syndrome 2 NGS test.

By Connective Tissue Gene Tests in United States.

NOTCH2
Specificity
100 %
Genes
100 %
Hajdu-Cheney syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

NOTCH2
Specificity
100 %
Genes
100 %
Hajdu-Cheney syndrome NGS test.

By Connective Tissue Gene Tests in United States.

NOTCH2
Specificity
100 %
Genes
100 %
Hajdu-Cheney syndrome Comprehensive test.

By Connective Tissue Gene Tests in United States.

NOTCH2
Specificity
100 %
Genes
100 %
Alagille syndrome 2 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

NOTCH2
Specificity
100 %
Genes
100 %
Alagille syndrome 2 Comprehensive test.

By Connective Tissue Gene Tests in United States.

NOTCH2
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
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
100 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center in Germany.

ELN, SARS2, CFTR, ENG, NOTCH3, CAV3, COL4A1, NOTCH1, ACVRL1, BMPR1B, CCNO, DNAAF4, KCNK3, CAV1, SMAD9, DNAAF3, DNAAF1, RSPH9, RSPH4A, DNAAF2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
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
100 %
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
100 %
NOTCH2-Related Alagille Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

NOTCH2
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Polycystic kidney panel.

By Centogene AG - the Rare Disease Company in Germany.

PKHD1, PKD2, PKD1, NOTCH2, BICC1
Specificity
20 %
Genes
100 %
Congenital Heart Defects Panel.

By CeGaT GmbH in Germany.

ELN, FOXC1, PITX2, JAG1, CHD7, MYH7, FLNA, TBX1, SEMA3E, RBM10, NODAL, FOXH1, NOTCH1, ACTC1, NKX2-5, MYH6, TBX5, GJA1, SMAD2, ZIC3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Alagille syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

JAG1, NOTCH2
Specificity
50 %
Genes
100 %
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
100 %
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
100 %
Alagille syndrome 2.

By Praxis fuer Humangenetik Wien in Austria.

NOTCH2
Specificity
100 %
Genes
100 %
Hajdu-Cheney syndrome.

By Praxis fuer Humangenetik Wien in Austria.

NOTCH2
Specificity
100 %
Genes
100 %
Alagille syndrome 2.

By MedGene in Slovakia.

NOTCH2
Specificity
100 %
Genes
100 %
Hajdu-Cheney syndrome.

By MedGene in Slovakia.

NOTCH2
Specificity
100 %
Genes
100 %
Invitae Alagille Syndrome Panel.

By Invitae in United States.

JAG1, NOTCH2
Specificity
50 %
Genes
100 %
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
100 %
Alagille syndrome: NOTCH2 gene sequence analysis.

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

NOTCH2
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCB11, ABCB4, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, SLC25A13, SMPD1, DGUOK, FAH, MPV17, CYP27A1, MKS1, CFTR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Alagille Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

JAG1, NOTCH2
Specificity
50 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
NOTCH2.

By Fulgent Genetics Fulgent Genetics in United States.

NOTCH2
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
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
100 %
Cystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

VHL, INVS, EYA1, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Polycystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

LRP5, JAG1, PKHD1, PKD2, PKD1, PRKCSH, NOTCH2, SEC63, DZIP1L, GANAB
Specificity
10 %
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
100 %
3-M Syndrome / Primordial Dwarfism Panel.

By Blueprint Genetics in Finland.

BCS1L, CENPJ, CEP152, PCNT, ATR, TRIM37, RBBP8, NOTCH2, SRCAP, RTTN, CUL7, CEP63, CDC45, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
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
100 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Alagille syndrome.

By Bioarray in Spain.

NOTCH2
Specificity
100 %
Genes
100 %
Alagille syndrome type 2.

By Bioarray in Spain.

NOTCH2
Specificity
100 %
Genes
100 %
Hajdu-Cheney syndrome.

By Bioarray in Spain.

NOTCH2
Specificity
100 %
Genes
100 %
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
100 %
Hematopoietic Disorders Gene Set.

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

RUNX1, TP53, IDH2, BCOR, BRAF, CREBBP, KRAS, NRAS, PTPN11, CBL, NSD1, ATM, GATA2, PAX5, CEBPA, MPL, NF1, SETBP1, GATA3, GATA1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Head & Neck Tumors Gene Set.

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

BRCA1, BRCA2, APC, PTEN, TP53, RB1, HRAS, KRAS, NRAS, NSD1, ATM, CDKN2A, SMAD4, NF1, KMT2D, MTOR, NOTCH1, TGFBR2, KDM6A, EP300 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
NOTCH2 Gene Sequencing and Deletion/Duplication Analysis.

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

NOTCH2
Specificity
100 %
Genes
100 %
Alagille Syndrome NGS and Deletion/Duplication Panel.

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

ATP8B1, JAG1, NOTCH2
Specificity
34 %
Genes
100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
ALAGILLE SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

JAG1, NOTCH2
Specificity
50 %
Genes
100 %
Alagille Syndrome Type 2, Sequencing NOTCH2 Gene.

By Reference Laboratory Genetics in Spain.

NOTCH2
Specificity
100 %
Genes
100 %
Alagille Syndrome Types 1 and 2 , Panel Massive Sequencing (NGS) JAG1, NOTCH2 Genes.

By Reference Laboratory Genetics in Spain.

JAG1, NOTCH2
Specificity
50 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
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
100 %

Alternate names

Alagille Syndrome 2; Algs2 Is also known as ;alagille-watson syndrome due to a notch2 point mutation; arteriohepatic dysplasia due to a notch2 point mutation; syndromic bile duct paucity due to a notch2 point mutation.



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