Christianson Syndrome

Description

Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by microcephaly, impaired ocular movements, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected (summary by Schroer et al., 2010 and Pescosolido et al., 2014).

Incidence and onset information

Not enough data available about incidence and published cases.

Christianson Syndrome Common symptoms

Top most frequent phenotypes related to Christianson Syndrome

  • Loss of ability to walk in first decade
  • Photosensitive tonic-clonic seizures
  • Inappropriate laughter
  • Conspicuously happy disposition
  • Happy demeanor
  • Hyperkinesis
  • Generalized seizures
  • Death in early adulthood
  • Slender finger
  • Abnormality of the nose
  • Bowel incontinence
  • Long nose
  • Mutism
  • Neuronal loss in central nervous system
  • Drooling
View the complete list of symptoms

Genes related to Christianson Syndrome

  • SLC9A6

Christianson Syndrome Recommended genes panels

Panel Name & Genes Tested specificity Genes covered
MitoMet®Plus aCGH Analysis

BEST1, OPN1MW, HNF1A, HBB, MUTYH, NEUROD1, SPATA7, RAX, BRCA1, FBLN5, EYA1, LRP5, COL2A1, COL1A2, COL3A1, ANKH, OCA2, VSX1, SLC34A1, SOST , (...)

View the complete list with 617 more genes

More info about this panel
1 % 100 %
SLC9A6 Sequence Analysis

SLC9A6

More info about this panel
100 % 100 %
SLC9A6 Sequence Analysis (Familial Mutation/Variant Analysis)

SLC9A6

More info about this panel
100 % 100 %
SLC9A6 Sequence Analysis (Prenatal Diagnosis)

SLC9A6

More info about this panel
100 % 100 %
Epilepsy Advanced Sequencing Evaluation - Epilepsy in X-Linked Intellectual Disability

PLP1, OFD1, SMS, ATRX, ARX, FGD1, PHF6, GRIA3, MECP2, CDKL5, SRPX2, OPHN1, HSD17B10, ATP6AP2, RAB39B, PCDH19, DCX, GPC3, PQBP1, SYP , (...)

View the complete list with 7 more genes

More info about this panel
4 % 100 %
Epilepsy Advanced Sequencing Evaluation - Epileptic Encephalopathies

UBE3A, SCN1A, NRXN1, SPTAN1, PNKP, SAMHD1, SYNGAP1, STXBP1, SLC2A1, SCN1B, ARX, MECP2, CDKL5, PCDH19, KCNT1, SCN8A, SCN9A, GRIN2A, SCN2A, FOXG1 , (...)

View the complete list with 11 more genes

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4 % 100 %
Epilepsy Advanced Sequencing Evaluation

FGFR3, SLC2A1, PAX6, DEPDC5, SCN1A, CCDC88C, DNAJC5, PRRT2, PEX7, NRXN1, PRICKLE2, GABRA1, TBC1D24, WDR62, SPTAN1, PNKP, TUBA8, FKRP, POMT2, SAMHD1 , (...)

View the complete list with 121 more genes

More info about this panel
1 % 100 %
Syndromic Autism Panel

ADNP, SCN1A, RAB39B, PAFAH1B1, NSD1, FOXP2, FGD1, CHD7, SYNE1, CTNNB1, PTEN, PHF6, PCDH19, ARX, NRXN1, NHS, MED12, CACNA1C, ATRX, CHD8 , (...)

View the complete list with 63 more genes

More info about this panel
2 % 100 %
NGS XLID Panel

PLP1, IDS, ABCD1, AIFM1, MECP2, DLG3, FGD1, ZDHHC9, BRWD3, CDKL5, SYN1, NHS, ARHGEF6, RAB39B, CCDC22, PHF6, OTC, HCCS, AFF2, ARX , (...)

View the complete list with 94 more genes

More info about this panel
1 % 100 %
Rett-Angelman Syndrome 2nd-Tier Sequencing Panel

NRXN1, OPHN1, MECP2, CDKL5, SLC2A1, ATRX, CTNNB1, UBE3A, ARX, PCDH19, PNKP, ZEB2, CNTNAP2, SLC9A6, TCF4, EHMT1, PQBP1, FOXG1, MEF2C, FOLR1 , (...)

View the complete list with 1 more genes

More info about this panel
5 % 100 %
NGS Epilepsy/Seizure Panel

SZT2, MCPH1, TGIF1, STXBP1, SPTAN1, SLC35A2, GABRA1, SLC13A5, CDKL5, PNKP, TBC1D24, PTCH1, PIGA, NODAL, PCDH19, PAFAH1B1, GRIN2B, SNAP25, SCN5A, CACNA2D1 , (...)

View the complete list with 125 more genes

More info about this panel
1 % 100 %
X-Linked Mental Retardation, Syndromic (Christianson Type/ Angelman-Like)

SLC9A6

More info about this panel
100 % 100 %
Autsim Panel

SLC2A1, AFF2, ZNF507, TSC1, STK3, ST7, SOX5, SMG6, SLC9A9, SCN1A, SATB2, RAB39B, PTPN11, PNKP, PHF6, PCDH19, PAFAH1B1, OPHN1, NSD1, NIPBL , (...)

View the complete list with 87 more genes

More info about this panel
1 % 100 %
Childhood Epilepsy

CHRNB2, UBE3A, TPP1, TBC1D24, SLC2A1, SCN1B, SCN1A, POLG, PNKP, NRXN1, NHLRC1, MECP2, MAGI2, GOSR2, GAMT, EPM2A, CLN5, CLN3, CHRNA2, GABRA1 , (...)

View the complete list with 27 more genes

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3 % 100 %
Comprehensive Brain Malformation Panel

CDK5RAP2, AHI1, ARFGEF2, RARS2, ATRX, ARX, OFD1, EOMES, CDON, EMX2, FKTN, FKRP, MED12, NODAL, COL4A1, PTCH1, MECP2, NSD1, RPGRIP1L, RAB3GAP1 , (...)

View the complete list with 86 more genes

More info about this panel
1 % 100 %
Epilepsy/Seizure

MAGI2, GATM, ADGRV1, GOSR2, NRXN1, NHLRC1, PRICKLE2, SYN1, EPM2A, SCARB2, WDR62, UBE3A, TSC1, TPP1, TBC1D24, STXBP1, SPTAN1, SLC2A1, SCN1B, SCN1A , (...)

View the complete list with 78 more genes

More info about this panel
2 % 100 %
Infantile Epilepsy

ARX, PTS, BTD, CLN8, NRXN1, QDPR, UBE3A, TPP1, TBC1D24, STXBP1, SPTAN1, SLC2A1, SCN1B, SCN1A, PRRT2, POLG, PNPO, PNKP, MECP2, GLDC , (...)

View the complete list with 40 more genes

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2 % 100 %
Microcephaly

RAB3GAP1, IER3IP1, NIPBL, TUBB3, WDR62, STIL, RBBP8, MCPH1, CENPJ, CDK5RAP2, ATRX, CDKL5, UBE3A, MECP2, CASK, DHCR7, RAB3GAP2, RAB18, MYCN, TCF4 , (...)

View the complete list with 8 more genes

More info about this panel
4 % 100 %
Rett - Angelman Syndrome

UBE3A, NRXN1, MECP2, CDKL5, ZEB2, WDR45, SLC9A6, MBD5, CNTNAP2, FOXG1, MEF2C, TCF4

More info about this panel
9 % 100 %
X-Linked Intellectual Disabilities Deletion/Duplication

HSD17B10, ACSL4, ATRX, ARX, ATP7A, BCOR, BRWD3, OFD1, CDKL5, DKC1, CLIC2, DLG3, FGD1, DMD, FANCB, MED12, NHS, HCCS, HPRT1, OCRL , (...)

View the complete list with 68 more genes

More info about this panel
2 % 100 %
X-linked Intellectual Disabilities Sequencing

HSD17B10, ACSL4, ATRX, ARX, ATP7A, BCOR, BRWD3, OFD1, CDKL5, DKC1, CLIC2, DLG3, FGD1, DMD, FANCB, MED12, NHS, HCCS, HPRT1, OCRL , (...)

View the complete list with 68 more genes

More info about this panel
2 % 100 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication

CCDC22, PGK1, PDHA1, OPHN1, OFD1, OCRL, PHF6, PCDH19, OTC, PLP1, PHF8, IDS, IGBP1, HSD17B10, HPRT1, HCCS, AFF2, ATP6AP2, ARX, MECP2 , (...)

View the complete list with 67 more genes

More info about this panel
2 % 100 %
Rett/Angelman Syndrome Deletion/Duplication Panel

CDKL5, ATRX, OPHN1, NRXN1, DYRK1A, PNKP, SLC2A1, MECP2, ARX, PCDH19, UBE3A, CNTNAP2, FOXG1, MEF2C, FOLR1, TCF4, EHMT1, SLC9A6, ZEB2, MBD5

More info about this panel
5 % 100 %
SLC9A6 sequencing

SLC9A6

More info about this panel
100 % 100 %
Non-Specific Intellectual Disability Panel

AP4B1, ZMYND11, TAF2, SOX11, SETD5, PGAP1, METTL23, WASHC4, FMN2, FBXO31, EZR, CRADD, ADNP, ZDHHC15, SMS, PDHA1, L1CAM, IGBP1, HPRT1, EIF2S3 , (...)

View the complete list with 153 more genes

More info about this panel
1 % 100 %
SLC9A6 deletion/duplication analysis

SLC9A6

More info about this panel
100 % 100 %
X-linked Non-Specific Intellectual Disability Panel

ACSL4, RPL10, ZDHHC15, SMS, PDHA1, L1CAM, IGBP1, HPRT1, EIF2S3, CLIC2, CCDC22, PCDH19, CDKL5, ARX, ZNF81, ZNF711, ZNF674, ZNF41, ZDHHC9, SYN1 , (...)

View the complete list with 59 more genes

More info about this panel
2 % 100 %
Angelman Syndrome Tier 2 Panel

MECP2, UBE3A, SLC9A6, TCF4

More info about this panel
25 % 100 %
Rett/Angelman Syndrome Sequencing Panel

OPHN1, NRXN1, DYRK1A, PNKP, TRAPPC9, SLC2A1, MECP2, ATRX, ARX, PCDH19, UBE3A, CDKL5, ADSL, WDR45, CNTNAP2, FOXG1, MEF2C, FOLR1, TCF4, EHMT1 , (...)

View the complete list with 3 more genes

More info about this panel
5 % 100 %
Microcephaly Sequencing Panel

UBE3A, SPATA5, SASS6, CENPF, TUBGCP4, WWOX, CRIPT, QARS, ASXL3, TSEN34, ATRX, CENPJ, ZNF335, CDKL5, CTNNB1, KNL1, CEP63, CEP135, TUBGCP6, KIF11 , (...)

View the complete list with 50 more genes

More info about this panel
2 % 100 %
Ataxia Exome Panel

AAAS, AHI1, NT5C2, PTS, AP4M1, AP4B1, AP4E1, AP4S1, ARL6IP1, NAXE, APTX, RARS2, ABCD1, RARS, BTD, HSD17B4, ACO2, ATM, ATP7B, ATP1A3 , (...)

View the complete list with 460 more genes

More info about this panel
1 % 100 %
Epilepsy Panel - Comprehensive

ATP1A2, KCNJ2, ARX, CDKL5, GLDC, GAMT, SLC2A1, SCN1A, POLG, PNPO, NEU1, DNM1, CERS1, GRIN2B, NHLRC1, GATM, DOCK7, EPM2A, CHRNA7, CHD2 , (...)

View the complete list with 49 more genes

More info about this panel
2 % 100 %
Comprehensive Epilepsy Panel

UBE3A, TSC1, STXBP1, TBC1D24, SPTAN1, SLC2A1, SCN1A, SCARB2, POLG, PNPO, PRRT2, PCDH19, NRXN1, NHLRC1, MAGI2, GRIN2B, GABRA1, DNAJC5, CHRNA7, CHRNA2 , (...)

View the complete list with 50 more genes

More info about this panel
2 % 100 %
Infantile Epilepsy Panel

UBE3A, TSC1, STXBP1, TBC1D24, SPTAN1, SLC2A1, SCN1A, POLG, PNPO, PRRT2, PCDH19, NRXN1, MAGI2, GRIN2B, GABRA1, CHRNA7, CDKL5, ATP6AP2, ARX, MECP2 , (...)

View the complete list with 33 more genes

More info about this panel
2 % 100 %
Childhood-Onset Epilepsy Panel

UBE3A, TBC1D24, SLC2A1, SCN1A, POLG, PCDH19, NRXN1, NHLRC1, MAGI2, GABRA1, CHRNA7, CHRNA2, CDKL5, MECP2, GATM, GOSR2, SCN1B, GAMT, EPM2A, CHRNB2 , (...)

View the complete list with 30 more genes

More info about this panel
2 % 100 %
Rett/Angelman Syndrome Panel

UBE3A, NRXN1, CDKL5, MECP2, ZEB2, TCF4, SLC9A6, MEF2C, MBD5, FOXG1, CNTNAP2

More info about this panel
10 % 100 %
SLC9A6 Gene Sequencing

SLC9A6

More info about this panel
100 % 100 %
Rett/Atypical Rett/Angelman

UBE3A, PCDH19, PNKP, ATRX, MECP2, ARX, NRXN1, CDKL5, MBD5, TCF4, CNTNAP2, FOXG1, MEF2C, EHMT1, SLC9A6, ZEB2

More info about this panel
7 % 100 %
Autism/Intellectual Disability/Multiple Anomalies

UBE3A, L1CAM, CDKL5, SCN1A, RPGRIP1L, RAB39B, PTEN, PTCH1, PNKP, PCDH19, OPHN1, NRXN1, NSD1, NRAS, NHS, NF1, KMT2D, MET, MECP2, PAFAH1B1 , (...)

View the complete list with 69 more genes

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2 % 100 %
Christianson syndrome

SLC9A6

More info about this panel
100 % 100 %
Rett/AngelmanNext

SLC2A1, ARX, NRXN1, UBE3A, PNKP, ATRX, SATB2, MECP2, CDKL5, DYRK1A, STXBP1, PCDH19, MBD5, SLC9A6, TCF4, CNTNAP2, ZEB2, MEF2C, FOXG1, EHMT1 , (...)

View the complete list with 2 more genes

More info about this panel
5 % 100 %
AutismNext

DYRK1A, RAB39B, GRIA3, PCDH19, CHD8, CACNA1C, SYNGAP1, ADNP, CDKL5, GRIN2B, CHD7, FMR1, MECP2, NSD1, MED12, UBE3A, NIPBL, POGZ, TSC1, KATNAL2 , (...)

View the complete list with 28 more genes

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3 % 100 %
Neurodevelopment-Expanded

PTEN, TSC1, SLC2A1, MECP2, GRIN2B, ARX, FLNA, DNM1, ATRX, PNKP, RAB39B, GRIA3, PCDH19, CHD8, CACNA1C, SYNGAP1, ADNP, CDKL5, CHD7, FMR1 , (...)

View the complete list with 176 more genes

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1 % 100 %
IDNext

DLG3, AP4B1, ACSL4, ATRX, ARX, ATP7A, BRWD3, CACNA1A, OFD1, CHD7, DYNC1H1, DDX3X, DNM1, FOXP2, FGD1, GATM, MED12, HNRNPU, NRXN1, NHS , (...)

View the complete list with 120 more genes

More info about this panel
1 % 100 %
CustomNext-Epilepsy

CDKL5, SLC2A1, ARX, SCN1A, SCN1B, FLNA, SYNGAP1, GRIN2B, MECP2, UBE3A, TPP1, SCARB2, NHLRC1, GOSR2, PRRT2, TBC1D24, PNKP, DNM1, TSC1, DNAJC5 , (...)

View the complete list with 52 more genes

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2 % 100 %
Angelman Syndrome Panel - MS-PCR, Seq and Del/Dup analysis of UBE3A, and Sequence analysis of SLC9A6

UBE3A, SNRPN, SLC9A6

More info about this panel
34 % 100 %
X-Linked Angelman Syndrome - SLC9A6 Sequence Analysis

SLC9A6

More info about this panel
100 % 100 %
X-Linked Angelman Syndrome - SLC9A6 Known Point Mutation Analysis

SLC9A6

More info about this panel
100 % 100 %
Angelman/Rett Seq

UBE3A, SLC2A1, DYRK1A, PNKP, MECP2, ATRX, CDKL5, OPHN1, ARX, PCDH19, SLC9A6, FOXG1, MEF2C, FOLR1, TCF4, EHMT1, ZEB2, MBD5

More info about this panel
6 % 100 %
Angelman/Rett Del/Dup

UBE3A, DYRK1A, PNKP, MECP2, ATRX, CDKL5, OPHN1, ARX, PCDH19, FOXG1, MEF2C, FOLR1, TCF4, EHMT1, SLC9A6, ZEB2, MBD5

More info about this panel
6 % 100 %
Angelman/ Rett Seq + Del/Dup

UBE3A, SLC2A1, DYRK1A, PNKP, MECP2, ATRX, CDKL5, OPHN1, ARX, PCDH19, SLC9A6, FOXG1, MEF2C, FOLR1, TCF4, EHMT1, ZEB2, MBD5

More info about this panel
6 % 100 %
Mental retardation, X-linked syndromic, Christianson type (sequence analysis of SLC9A6 gene)

SLC9A6

More info about this panel
100 % 100 %
Epileptic encephalopathy (NGS panel for 67 genes)

SLC13A5, SCN1A, SCN1B, SAMHD1, ACY1, CHD2, CDKL5, ARX, CPT2, SZT2, SYNGAP1, SPTAN1, SLC2A1, MAGI2, GRIN2B, KCNB1, PNPO, PNKP, PCDH19, NRXN1 , (...)

View the complete list with 47 more genes

More info about this panel
2 % 100 %
Mental retardation, X-linked (NGS panel for 89 genes)

RAB39B, RPS6KA3, SOX3, SMS, SYN1, SRPX2, MECP2, MED12, L1CAM, LAMP2, AFF2, ACSL4, ABCD1, ATP6AP2, ARX, ARHGEF6, ATRX, ATP7A, OTC, OCRL , (...)

View the complete list with 69 more genes

More info about this panel
2 % 100 %
Early Infantile Epileptic Encephalopathy Sequencing Panel

POLG, WWOX, SLC35A2, CHRNA2, PNPO, ACY1, SLC2A1, SCARB2, NHLRC1, CLN3, KCNA2, PRRT2, GOSR2, CHRNB2, ARX, EPM2A, TPP1, KCNB1, SZT2, CHD2 , (...)

View the complete list with 60 more genes

More info about this panel
2 % 100 %
Early Infantile Epileptic Encephalopathy: Dominant and X-linked Sequencing Panel

STXBP1, SCN1A, SPTAN1, SCN1B, MECP2, KCNA2, SLC35A2, PRRT2, CHRNA2, SLC2A1, CHRNB2, KCNB1, CHD2, DEPDC5, CDKL5, PCDH19, ARX, GABRA1, GABRG2, LGI1 , (...)

View the complete list with 19 more genes

More info about this panel
3 % 100 %
X-Linked Intellectual Disability Sequencing Panel

CCDC22, CNKSR2, ZC4H2, MECP2, L1CAM, ATRX, ZDHHC9, GRIA3, OPHN1, ATP6AP2, ARX, USP9X, PDHA1, AIFM1, CLIC2, ATP7A, NHS, PGK1, SYN1, RAB39B , (...)

View the complete list with 61 more genes

More info about this panel
2 % 100 %
Christianson Type X-Linked Mental Retardation via the SLC9A6 Gene

SLC9A6

More info about this panel
100 % 100 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel

PRSS12, METTL23, ADNP, SETD5, RPS6KA3, ZNF711, TRAPPC9, CRBN, ATRX, ZDHHC9, ZC3H14, MED13L, DDX3X, MED25, CTNNB1, STXBP1, FGD1, ARX, RAB39B, CHD2 , (...)

View the complete list with 63 more genes

More info about this panel
2 % 100 %
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel

NRXN1, CDKL5, ARX, MECP2, UBE3A, MBD5, MEF2C, CNTNAP2, WDR45, TCF4, SLC9A6, FOXG1, ZEB2

More info about this panel
8 % 100 %
Mental retardation - different panels

UBR1, UPB1, GATM, MOGS, KIF11, BCS1L, ANKH, RAB3GAP1, COG5, TUBGCP6, RMND1, SPATA5, TUBA8, GBA2, ZNF711, ACOX1, ISPD, ATP6V0A2, SETD5, SURF1 , (...)

View the complete list with 847 more genes

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1 % 100 %
SLC9A6-Related Syndromic Mental Retardation

SLC9A6

More info about this panel
100 % 100 %
Mental Retardation and Dysmorphology - panels

HSD17B10, AGTR2, ANK3, ACSL4, ATRX, AGL, ARX, ATP7A, ALX3, ABCC6, ABCC9, BCOR, BRWD3, OFD1, CBL, CTNNB1, CDKL5, CHD7, CHD8, DKC1 , (...)

View the complete list with 323 more genes

More info about this panel
1 % 100 %
Syndromal Diseases - panels

CTNNB1, DCHS1, SMARCA2, SRPX2, NOG, FANCB, IGBP1, FHL1, GRIN2B, OPHN1, NHS, FAT4, EIF2S3, FGD1, PYGL, DOCK6, CHD7, PHKG2, IRF6, THOC2 , (...)

View the complete list with 322 more genes

More info about this panel
1 % 100 %
X-Linked Mental Retardation

OCRL, OTC, OPHN1, OFD1, PHF6, PGK1, PDHA1, PCDH19, PLP1, PHF8, KDM6A, IKBKG, IDS, IGBP1, HSD17B10, AIFM1, AGTR2, AFF2, ACSL4, ARX , (...)

View the complete list with 93 more genes

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1 % 100 %
Brain Malformations / Neuronal Migration Disorders

TUBA8, FGFR3, FANCB, FLNA, TBC1D24, CLP1, CHRNB2, SGCE, SCARB2, SEPSECS, SCN1B, ACSL4, ZNF711, IDS, HSD17B10, SGSH, RAB39B, BRWD3, CCND2, HERC2 , (...)

View the complete list with 246 more genes

More info about this panel
1 % 100 %
Angelman Syndrome and Differential Diagnoses

SYNGAP1, ARX, UBE3A, CDKL5, NRXN1, PCDH19, HERC2, DYRK1A, MECP2, ATRX, EHMT1, KDM5C, TCF4, FOXG1, ZEB2, MEF2C, CNTNAP2, NEXMIF, MBD5, SLC9A6

More info about this panel
5 % 100 %
Epileptic syndromes with epilepsy and intellectual disability panel

UBE3A, ATP6AP2, CNKSR2, TBC1D24, SAMHD1, HSD17B10, NRXN1, ATRX, MED12, PLP1, ARX, CDKL5, MECP2, OFD1, DYRK1A, GRIN2B, PNKP, SYNGAP1, STXBP1, SMS , (...)

View the complete list with 30 more genes

More info about this panel
2 % 100 %
Comprehensive mitochondrial disorders panel

UQCRB, MCEE, MLYCD, SCP2, GLDC, HK1, HAX1, CYP11B2, CYP11B1, CRBN, CPOX, OTC, PANK2, ABCB6, ABAT, ACADSB, DMGDH, CYP27B1, CYP27A1, ALDH6A1 , (...)

View the complete list with 160 more genes

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1 % 100 %
AllNeuro panel

MTOR, JRK, CAV3, NXF5, AMPD2, SCN3A, ZCCHC12, ARSI, USP8, TTN, TBL1XR1, TFG, DHTKD1, ERLIN1, LIMS2, MAG, DAG1, HMGCS2, MTR, PTS , (...)

View the complete list with 1185 more genes

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1 % 100 %
CentoICU platinum plus

ADA, SOX6, INS, KRAS, HNF1A, DNA2, SLC2A1, GNAS, WT1, F5, IL2, NPC1, FGFR2, HBB, LAMB3, ACADL, AIFM1, RET, F9, FBN1 , (...)

View the complete list with 494 more genes

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1 % 100 %
CentoICU platinum

ADA, SOX6, INS, KRAS, HNF1A, DNA2, SLC2A1, GNAS, WT1, F5, IL2, NPC1, FGFR2, HBB, LAMB3, ACADL, AIFM1, RET, F9, FBN1 , (...)

View the complete list with 494 more genes

More info about this panel
1 % 100 %
Mental retardation, X-linked syndromic, Christianson type

SLC9A6

More info about this panel
100 % 100 %
Autism Spectrum Disorders / Intellectual Disability Disorder

CDKL5, UBE3A, SHANK2, SHANK3, MBD5, NLGN4X, TCF4, SLC9A6, NLGN3

More info about this panel
12 % 100 %
Epileptic Encephalopathy Panel

TBC1D24, PNPO, MOCS2, CACNA1A, KCNA2, GRIN2B, CDKL5, CHD2, STXBP1, SLC35A2, TSC1, PCDH19, NRXN1, BRAT1, SCN1A, GLDC, MECP2, SZT2, UBE3A, PNKP , (...)

View the complete list with 57 more genes

More info about this panel
2 % 100 %
Epilepsy and X-linked Mental Retardation with Seizures Panel

ARX, CDKL5, HSD17B10, OFD1, OPHN1, SMS, ATRX, GRIA3, PCDH19, RAB39B, SYN1, ATP6AP2, PHF6, MECP2, MED12, PGK1, UBE2A, CASK, PAK3, CUL4B , (...)

View the complete list with 5 more genes

More info about this panel
4 % 100 %
Test for SLC9A6-Related Syndromic Mental Retardation

SLC9A6

More info about this panel
100 % 100 %
Spinocerebellar Ataxia

CYP27A1, WWOX, SETX, PHYH, ATM, APTX, PNKP, CWF19L1, CCDC88C, LAMA1, ELOVL5, COQ8A, CLCN2, TPP1, FXN, RNF216, KCND3, SLC52A2, ACO2, AFG3L2 , (...)

View the complete list with 43 more genes

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2 % 100 %
Epilepsy

FGF12, POLG, ATP1A2, ITPA, SLC12A5, MTOR, SPATA5, KCNA2, DNM1, CERS1, WWOX, GRIN2B, KCNB1, NHLRC1, SLC13A5, GAMT, DOCK7, EPM2A, GABRA1, SLC35A3 , (...)

View the complete list with 104 more genes

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1 % 100 %
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders

MAP2K1, TSC1, BRAF, MAP2K2, NODAL, SOS1, ATP1A2, SCN5A, MET, DNAJC5, NDUFAF6, CCDC88C, ELP4, CHRNA7, OFD1, SCN1A, SCN11A, ATP6AP2, FAAH, CNTN2 , (...)

View the complete list with 411 more genes

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1 % 100 %
devSEEK® Sequence Analysis for Neurodevelopmental Disorders

UBE3A, RAB39B, PNKP, PAFAH1B1, MED12, MECP2, FLNA, EBP, STXBP1, ATRX, ARX, ARFGEF2, GRIN2B, DYNC1H1, FMN2, ZMYND11, METTL23, L1CAM, ADNP, SOX11 , (...)

View the complete list with 181 more genes

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1 % 100 %
epiSEEK® Focus Epilepsy Panel

TSC1, TBC1D24, SLC2A1, SCN1A, PRRT2, POLG, MECP2, GRIN2B, PNKP, NHLRC1, GATM, GAMT, EPM2A, GABRA1, CHRNA7, ATP1A2, ATP6AP2, SCN1B, CHD2, CDKL5 , (...)

View the complete list with 55 more genes

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2 % 100 %
Microcephaly Spotlight Panel

UBE3A, ATRX, CDKL5, CDK5RAP2, MECP2, RAB3GAP1, MCPH1, NIPBL, STIL, WDR62, ASPM, CASK, PCNT, SLC9A6, ZEB2, FOXG1, ATR, SLC25A19, TCF4

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6 % 100 %
Mental retardation, X-linked syndromic, Christianson type

SLC9A6

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100 % 100 %
Mental retardation, X-linked syndromic, Christianson type

SLC9A6

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100 % 100 %
Invitae Epilepsy Panel

UBE3A, SYNJ1, ITPA, ATP1A3, PRRT2, CHRNA2, PNKP, ARX, TBC1D24, SCN3A, GRIN2B, GABRA1, SYNGAP1, WWOX, STXBP1, SZT2, SPTAN1, SCN1A, CHD2, HNRNPU , (...)

View the complete list with 105 more genes

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1 % 100 %
Invitae Rett and Angelman Syndromes and Related Disorders Panel

UBE3A, CDKL5, STXBP1, ATRX, SATB2, MECP2, KANSL1, NRXN1, DYRK1A, ADSL, NGLY1, SCN8A, FOXG1, MEF2C, TCF4, EHMT1, CNTNAP2, IQSEC2, SLC9A6, ALDH5A1 , (...)

View the complete list with 2 more genes

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5 % 100 %
Angelman-Like Syndrome: SLC9A6 Gene Sequencing

SLC9A6

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100 % 100 %
Angelman-Like Syndrome: SLC9A6 Gene Deletion/Duplication

SLC9A6

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100 % 100 %
Epilepsy and Seizure Disorders: Sequencing and Deletion/Duplication Panel

ATP1A2, SCN3A, TBC1D24, TPP1, ATP6AP2, SCN1B, TSC1, GABRA1, ADGRV1, SLC2A1, CENPJ, FLNA, PRRT2, MAGI2, POLG, CLN8, SCN1A, CACNA1A, DNAJC5, MECP2 , (...)

View the complete list with 88 more genes

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1 % 100 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel

NDUFA1, SMS, OFD1, ATP6AP2, HSD17B10, RPS6KA3, CCDC22, CNKSR2, SOX3, OCRL, ATRX, MED12, NHS, MECP2, FLNA, L1CAM, DMD, ATP7A, PLP1, ARX , (...)

View the complete list with 71 more genes

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2 % 100 %
Autism Spectrum Disorders: Tier 2 Panel

CHD7, PTEN, NSD1, NR1I3, PTPN11, ATRX, MED12, NHS, SLC2A1, L1CAM, DMD, BRAF, SCN1A, CACNA1C, MECP2, ARX, CDKL5, CHD8, FMR1, NRXN1 , (...)

View the complete list with 42 more genes

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2 % 100 %
Neurology: Sequencing Panel

NODAL, ATP1A2, RBBP8, EOMES, GABRA1, TBC1D24, TPP1, ATP6AP2, SCN1B, TSC1, TUBB3, POMGNT1, FKRP, FKTN, ATRX, RPGRIP1L, KIF7, NPHP1, MKS1, ADGRV1 , (...)

View the complete list with 144 more genes

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1 % 100 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel

UBE3A, ATRX, ARX, CDKL5, CHD7, FOXP2, FGD1, DMD, MED12, NRXN1, NHS, HPRT1, MECP2, PCDH19, NSD1, SLC2A1, BRAF, FMR1, NIPBL, OPHN1 , (...)

View the complete list with 39 more genes

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2 % 100 %
Autism NGS Panel

SATB2, BRAF, CACNA1C, PTPN11, PTEN, NSD1, MECP2, SCN1A, ARX, CDKL5, PCDH19, PNKP, AVPR1A, GRPR, DLGAP2, CHD7, UBE3A, FGD1, HOXA1, ATRX , (...)

View the complete list with 80 more genes

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1 % 100 %
Epilepsy NGS Panel

TGIF1, COL4A1, POMT1, FKTN, FKRP, POMT2, NRAS, MAP2K1, SHOC2, MAP2K2, BRAF, SCN5A, SCN1B, SCN3B, RAF1, KRAS, SOS1, HRAS, PTPN11, NODAL , (...)

View the complete list with 323 more genes

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1 % 100 %
Intellectual Disability NGS Panel

SATB2, POMT1, FKTN, FKRP, POMT2, KRAS, PTPN11, GBA, PTEN, RBBP8, ATP1A2, FGFR2, BRCA2, PRKAR1A, PAX6, HAX1, USP9X, RAB40AL, GAMT, SLC2A1 , (...)

View the complete list with 372 more genes

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1 % 100 %
Rett-Angelman Syndrome NGS Panel

SLC2A1, MECP2, ARX, CDKL5, PCDH19, PNKP, UBE3A, ATRX, OPHN1, MED17, TRAPPC9, ZEB2, FOXG1, CAV1, MEF2C, SLC9A6, CNTNAP2, TCF4

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6 % 100 %
XLID NGS Panel

USP9X, MECP2, ARX, CDKL5, CCDC22, FAAH2, GSPT2, CNKSR2, ZCCHC12, OCRL, ATP7A, NDUFA1, PDHA1, ATP6AP2, SYN1, SRPX2, FGD1, ATRX, OPHN1, FANCB , (...)

View the complete list with 87 more genes

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1 % 100 %
SLC9A6

SLC9A6

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100 % 100 %
Essential Epilepsy NGS Panel

KCNB1, ACY1, ARX, CHRNB2, CDKL5, DNM1, NRXN1, MECP2, PCDH19, SLC2A1, ST3GAL5, SCN1B, SLC35A2, SYNGAP1, GRIN2B, GAMT, POLG, KCNA2, PNPO, SAMHD1 , (...)

View the complete list with 50 more genes

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2 % 100 %
Idiopathic Generalized Epilepsy NGS Panel

HSD17B10, ATRX, ARX, CACNA1A, CHRNB2, OFD1, CLCN2, CDKL5, DYNC1H1, FGD1, GOSR2, NRXN1, NHLRC1, MECP2, NIPA2, PLP1, PCDH19, DNAJC5, PRICKLE2, SLC2A1 , (...)

View the complete list with 69 more genes

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2 % 100 %
Early-Onset Epileptic Encephalopathy NGS Panel

KCNB1, QARS, ATP1A2, ADGRV1, KCNH5, CLN5, TPP1, GATM, SLC12A5, KPNA7, ARFGEF2, WWOX, SCN3A, HCN2, CHRNA7, MAGI2, NR2F1, SCN5A, MTOR, KCNH2 , (...)

View the complete list with 113 more genes

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1 % 100 %
Comprehensive Epilepsy NGS Panel

SHOC2, COG7, STIL, SMS, KAT6B, SUMF1, GLRB, ABCB1, COQ2, EFHC2, GLI2, ME2, PEX7, POMT1, KMT2D, NDUFA1, LBR, NRAS, NPC1, RFT1 , (...)

View the complete list with 427 more genes

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1 % 100 %
X-chromosome High Resolution microarray analysis

SOX3, STS, GJB1, BTK, SYN1, FHL1, F8, SAT1, MECP2, CHRDL1, VMA21, RPGR, OFD1, AR, HSD17B10, FLNA, IKBKG, G6PD, ZC4H2, DMD , (...)

View the complete list with 140 more genes

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1 % 100 %
Epileptic Encephalopathy Panel

ARX, CACNA1A, CDKL5, DNM1, GLDC, HEPACAM, HNRNPU, NRXN1, MECP2, PCDH19, SLC13A5, SLC2A1, ST3GAL5, SCN1B, SYN1, SLC35A2, SYNGAP1, WWOX, FLNA, GRIN2B , (...)

View the complete list with 63 more genes

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2 % 100 %
Epilepsy and X-linked Developmental Delay Panel

HSD17B10, ATRX, ARX, OFD1, CDKL5, MED12, PGK1, MECP2, PCDH19, SYN1, GRIA3, OPHN1, PHF6, SMS, RAB39B, ARHGEF9, CASK, CUL4B, KDM5C, SLC9A6 , (...)

View the complete list with 2 more genes

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5 % 100 %
Comprehensive Epilepsy Panel

ABCD1, HSD17B10, PTS, ATRX, ARG1, BTD, ARX, CACNA1A, CHRNB2, NDUFAF5, OFD1, CLN8, CLCN2, CDKL5, FAM126A, DNM1, GLDC, EIF2B4, L2HGDH, FH , (...)

View the complete list with 174 more genes

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1 % 100 %
Ataxia Panel

AHI1, APTX, ACO2, ATM, ATXN2, ATXN3, ATXN7, ATN1, BBS4, BBS10, BEAN1, CACNA1A, OFD1, CLCN2, DNAJC19, CEP290, SLC52A2, CLPP, FLVCR1, KIF1C , (...)

View the complete list with 121 more genes

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1 % 100 %
X-linked Developmental Delay Panel

ABCD1, HSD17B10, AGTR2, ACSL4, ATRX, ARX, ATP7A, BCOR, BRWD3, OFD1, CDKL5, DKC1, DLG3, FGD1, FANCB, MED12, NHS, HCCS, HPRT1, OCRL , (...)

View the complete list with 74 more genes

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2 % 100 %
INTELLECTUAL DEFICIT (X-LINKED), SOUTH AFRICA TYPE (CHRISTIANSON SYNDROME)

SLC9A6

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100 % 100 %
X-Linked Mental Retardation Type Christianson , Sequencing SLC9A6 Gene

SLC9A6

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100 % 100 %

Alternate names

Christianson Syndrome Is also known as angelman-like syndrome, x-linked, mental retardation, microcephaly, epilepsy, and ataxia syndrome;.

Sources

OMIM ORPHANET

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