Chromosome 1q21.1 Deletion Syndrome, 1.35-mb

Description

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 1q21.1 Deletion Syndrome, 1.35-mb

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Strabismus
  • Failure to thrive
  • Sensorineural hearing impairment
And another 54 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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Chromosome 1q21.1 Deletion Syndrome, 1.35-mb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BCL9.

By Fulgent Genetics Fulgent Genetics in United States.

BCL9
Specificity
100 %
Genes
34 %
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
34 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
34 %
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
34 %
Cataract 1, multiple types (sequence analysis of GJA8 gene).

By CGC Genetics in Portugal.

GJA8
Specificity
100 %
Genes
34 %
Cataracts (NGS panel for 41 genes).

By CGC Genetics in Portugal.

EYA1, PAX6, PITX3, WFS1, NHS, CRYAB, AGK, FYCO1, GJA3, GALT, GALK1, SIL1, MAF, FOXE3, CTDP1, FTL, CRYBA4, GJA8, GCNT2, CRYBB1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
34 %
Congenital Cataracts Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
34 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
34 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
34 %
Cataract panel.

By Centogene AG - the Rare Disease Company in Germany.

EYA1, PAX6, PITX3, WFS1, FOXC1, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, MAF, FOXE3, CTDP1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
34 %
Cataract-microcornea syndrome.

By Centogene AG - the Rare Disease Company in Germany.

GJA8
Specificity
100 %
Genes
34 %
Cataract Panel.

By CeGaT GmbH in Germany.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIL1, MAF, FOXE3, FTL, CRYBA4, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
34 %
Cataract.

By Asper Biogene Asper Biogene LLC in Estonia.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIX6, SIL1, MAF, CTDP1, GJA1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
34 %
Invitae Congenital Cataracts Panel.

By Invitae in United States.

PAX6, PITX3, OCRL, FOXC1, PITX2, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIL1, MAF, CTDP1, VSX2, FAM126A, GJA8, GCNT2, CRYBB1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
GJA8.

By Fulgent Genetics Fulgent Genetics in United States.

GJA8
Specificity
100 %
Genes
34 %
Corneal Dystrophy Panel.

By Blueprint Genetics in Finland.

ZEB1, TGFBI, PITX2, CYP4V2, COL5A1, KRT12, KRT3, GSN, TCF4, SLC4A11, LOXHD1, PRDM5, ZNF469, CHST6, MAF, FOXE3, LCAT, KERA, COL17A1, COL8A2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
34 %
Congenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel.

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

NHS, CRYAB, AGK, FYCO1, GALK1, SIL1, CTDP1, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, HSF4
Specificity
7 %
Genes
34 %
GJA8 Gene Sequencing and Deletion/Duplication Analysis.

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

GJA8
Specificity
100 %
Genes
34 %
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes.

By Reference Laboratory Genetics in Spain.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
34 %
Atrial Fibrillation Panel.

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

LMNA, KCNJ2, KCND3, KCNH2, SCN1B, SCN5A, KCNE1, KCNQ1, ABCC9, SCN2B, SCN3B, KCNE2, KCNA5, NUP155, NPPA, GJA5
Specificity
7 %
Genes
34 %
GJA5.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GJA5
Specificity
100 %
Genes
34 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis.

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

LMNA, CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
34 %
Atrial fibrillation, familial 11 (sequence analysis of GJA5 gene).

By CGC Genetics in Portugal.

GJA5
Specificity
100 %
Genes
34 %
Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

KCNJ2, KCND3, KCNH2, SCN1B, SCN5A, KCNE1, KCNQ1, ABCC9, SCN2B, SCN3B, KCNE2, KCNA5, NPPA, GJA5, KCNE5
Specificity
7 %
Genes
34 %
Atrial Fibrillation via GJA5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GJA5
Specificity
100 %
Genes
34 %
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
34 %
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DSP, CAV3, DES, LDB3, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
34 %
Atrial fibrillation type 11.

By Centogene AG - the Rare Disease Company in Germany.

GJA5
Specificity
100 %
Genes
34 %
Atrial Fibrillation and Short QT Syndrome Panel.

By CeGaT GmbH in Germany.

KCNJ2, KCNH2, SCN1B, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, ABCC9, SCN2B, SCN3B, CACNB2, KCNE2, SCN4B, KCNA5, NPPA, GJA5
Specificity
6 %
Genes
34 %
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
34 %
Cardio-channelopathy-gene-panel.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, ANK2, RYR2 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
34 %
Arrhythmia.

By Asper Biogene Asper Biogene LLC in Estonia.

DSP, LMNA, CAV3, DES, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
34 %
Auricular Fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2, KCNE2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
34 %
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
34 %
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
34 %
Cardiac Conduction Disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, EMD, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4, KCNE2, SCN4B, ACTC1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
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
34 %
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
34 %
Ventricular arrhythmia and sudden death without structural heart disease.

By Health in Code in Spain.

HFE, TTR, GAA, DSP, CAVIN1, GLA, LMNA, CAV3, DES, MYH7, FLNC, LDB3, SYNE1, TMEM43, SYNE2, EMD, KCNJ2, KCND3, KCNH2, SCN1B , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
34 %
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
34 %
Cardiac conduction disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, SYNE1, SYNE2, EMD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
Atrial fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, ZFHX3, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
34 %
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
34 %
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
34 %
Arrhythmias: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DSP, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, SLC22A5, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
34 %
Arrhythmia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DSP, CPT1A, SLC25A20, LMNA, CAV3, DES, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, KCNJ8, SCN3B, KCNE3, CACNB2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
34 %
Pan-Cardio NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, GAA, EYA4, JAG1, DSP, CRYAB, RAF1, MRPL3, NDUFAF1, TAZ, COX15, FXN, SDHA, DOLK, DMD, GLA, PTPN11, FKTN, LMNA, PSEN2 , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
34 %
Atrial Fibrillation NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LMNA, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, RYR2, KCNE2, KCNJ5, SCN4B, KCNA5, GATA4, GATA6 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
Sudden Death Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PSEN1, EYA4, DSP, SLC25A4, FBN1, TAZ, FKTN, LMNA, PSEN2, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, KCNJ2, KCNH2 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
34 %
GJA5.

By Fulgent Genetics Fulgent Genetics in United States.

GJA5
Specificity
100 %
Genes
34 %
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
34 %
Cardiac Arrhythmia Exome Panel.

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

DSP, GLA, LMNA, CAV3, TTN, DES, LDB3, TMEM43, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, TRPM4 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
34 %
Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

KCNJ2, SCN1B, SCN5A, KCNQ1, ABCC9, SCN2B, SCN3B, KCNE2, SCN4B, KCNA5, NUP155, NPPA, GJA5
Specificity
8 %
Genes
34 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

TTR, RET, EYA4, PITX2, DSP, CRYAB, DNM1L, SLC25A3, TSFM, DNAJC19, PHOX2A, TAZ, DMD, DMPK, PTPN11, PHOX2B, FKTN, LMNA, CAV3, TTN , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
34 %
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

TTR, GAA, GLA, LMNA, DES, EMD, KCNJ2, SCN1B, HCN4, SCN5A, CACNA1D, LAMP2, TRPM4, ACTC1, NKX2-5, PRKAG2, TBX5, GJA5, SCN10A, TNNI3K
Specificity
5 %
Genes
34 %

Alternate names

Chromosome 1q21.1 Deletion Syndrome, 1.35-mb Is also known as ;del(1)(q21); monosomy 1q21.1.



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