2p21 Microdeletion Syndrome

Description

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

Clinical Features

Top most frequent phenotypes and symptoms related to 2p21 Microdeletion Syndrome

  • Seizures
  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Depressed nasal bridge
  • Frontal bossing
  • Hypogonadism
  • Intellectual disability, moderate
  • Hypoglycemia
And another 9 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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2p21 Microdeletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

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

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
2 %
Genes
75 %
PPM1B.

By Fulgent Genetics Fulgent Genetics in United States.

PPM1B
Specificity
100 %
Genes
25 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
25 %
Congenital Myasthenic Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, SCN4A, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SNAP25, COL13A1, SYT2, PREPL, LRP4, ALG14
Specificity
5 %
Genes
25 %
Congenital Myasthenic Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, SCN4A, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SNAP25, COL13A1, SYT2, PREPL, LRP4, ALG14
Specificity
5 %
Genes
25 %
Hypotonia-cystinuria syndrome (sequence analysis of PREPL gene).

By CGC Genetics in Portugal.

PREPL
Specificity
100 %
Genes
25 %
Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes).

By CGC Genetics in Portugal.

SLC3A1, PREPL, SLC7A9
Specificity
67 %
Genes
50 %
Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes).

By CGC Genetics in Portugal.

SLC3A1, PREPL, SLC7A9
Specificity
67 %
Genes
50 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
25 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
25 %
Congenital Myasthenic Syndrome (CMS).

By MGZ Medical Genetics Center in Germany.

ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SNAP25, PREPL, LRP4, ALG14
Specificity
6 %
Genes
25 %
Muscle Disease with Ptosis / External Ophthalmoplegia.

By MGZ Medical Genetics Center in Germany.

TWNK, TUBB3, POLG, SLC25A4, RRM2B, POLG2, ALG2, CHAT, KIF21A, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, RYR1, MTM1, COLQ, MUSK, GFPT1, AGRN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
25 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
25 %
Cystinuria.

By Centogene AG - the Rare Disease Company in Germany.

PREPL
Specificity
100 %
Genes
25 %
Hypotonia-cystinuria syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PREPL
Specificity
100 %
Genes
25 %
Hypotonia-cystinuria syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PREPL
Specificity
100 %
Genes
25 %
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 %
Congenital Myasthenic Syndromes and Arthrogryposis Panel.

By CeGaT GmbH in Germany.

FKBP10, PLOD2, ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, SCN4A, LAMB2, TPM2, SYNE1, PLEC, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
25 %
Invitae Cystinuria Panel.

By Invitae in United States.

SLC3A1, PREPL, SLC7A9
Specificity
67 %
Genes
50 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
50 %
PREPL.

By Fulgent Genetics Fulgent Genetics in United States.

PREPL
Specificity
100 %
Genes
25 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
50 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
50 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
25 %
SLC3A1. Complete sequencing.

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

SLC3A1
Specificity
100 %
Genes
25 %
SLC3A1, SLC7A9. NextGeneDx. Complete sequencing by NGS.

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

SLC3A1, SLC7A9
Specificity
50 %
Genes
25 %
Cystinuria (sequence analysis of SLC3A1 gene).

By CGC Genetics in Portugal.

SLC3A1
Specificity
100 %
Genes
25 %
Cystinuria.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC3A1, SLC7A9
Specificity
50 %
Genes
25 %
Cystinuria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC3A1, SLC7A9
Specificity
50 %
Genes
25 %
Cystinuria via the SLC3A1 Gene.

By PreventionGenetics PreventionGenetics in United States.

SLC3A1
Specificity
100 %
Genes
25 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
25 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
25 %
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
25 %
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
25 %
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
25 %
SLC3A1 associated Cystinuria.

By Institute of Human Genetics Cologne University in Germany.

SLC3A1
Specificity
100 %
Genes
25 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
25 %
Cystinuria.

By Centogene AG - the Rare Disease Company in Germany.

SLC3A1
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
Single gene testing SLC3A1.

By CeGaT GmbH in Germany.

SLC3A1
Specificity
100 %
Genes
25 %
Cystinuria.

By Praxis fuer Humangenetik Wien in Austria.

SLC3A1
Specificity
100 %
Genes
25 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
25 %
Cystinuria.

By MedGene in Slovakia.

SLC3A1
Specificity
100 %
Genes
25 %
SLC3A1.

By Fulgent Genetics Fulgent Genetics in United States.

SLC3A1
Specificity
100 %
Genes
25 %
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
25 %
Cystinuria Panel.

By Blueprint Genetics in Finland.

SLC3A1, SLC7A9
Specificity
50 %
Genes
25 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
25 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
25 %
Cystinuria.

By Bioarray in Spain.

SLC3A1
Specificity
100 %
Genes
25 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
25 %
Cystinuria.

By LifeLabs Genetics in Canada.

SLC3A1
Specificity
100 %
Genes
25 %
Cystinuria Type A , Sequencing SLC3A1 Gene.

By Reference Laboratory Genetics in Spain.

SLC3A1
Specificity
100 %
Genes
25 %
Cystinuria , Panel Massive Sequencing (NGS) SLC3A1, SLC7A9 Genes.

By Reference Laboratory Genetics in Spain.

SLC3A1, SLC7A9
Specificity
50 %
Genes
25 %

Alternate names

2p21 Microdeletion Syndrome Is also known as 2p21 deletion syndrome; del(2)(p21); monosomy 2p21.



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