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GenetischePanel-Diagnostik

ErkrankungHelsmoortel-Van der Aa-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Helsmoortel-Van der Aa-Syndrom (ADNP-related disorder) mit zusammen genommen 145 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
HP9222
Anzahl Gene
145 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,4 kb (Core-/Basis-Gene)
427,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS + X

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ADNP3309AD
ACSL42013XLD
AFF23936XLR
ANK33006AR
AP1S2474XLR
ARID1A6858AD und/oder SMu und/oder Sus
ARID1B6750AD und/oder SMu
ARID25508AD
ARX1689XL
ASH1L8895AD
ATP6AP21053XLR
BRWD35409XLR
C12orf41659AR
CACNG2972AD
CAMK2G1620AD
CASK2766XL
CC2D1A2856AR
CDH152445AD
CHAMP12439AD
CIC4827AD
CLCN42283XLD
CLIC2744XLR
CNKSR23015XL
CRADD600AR
CRBN1329AR
CTCF1200AD
CTNNB12346AD und/oder SMu und/oder Sus
CUL4B2742XLR
DDX3X1986XL und/oder SMu
DEAF11698AR
DLG32454XLR
DLG42166AD
DPF21175AD
DPP62406AD
DYNC1H113941AD
DYRK1A2292AD
EEF1A21392AD
EHMT13897AD
EIF2S31419XLR
ELP22676AR
EPB41L12643AD
FBXO311620AR
FGD12886XLR
FMN25169AR
FMR11899XL
FRMPD43969XL
FTSJ1990XLR
GATAD2B1782AD
GDI11344XLD
GRIA32685XLR
GRIK22727AR
GRIN2B4455AD
HCFC16108XLR
HERC214505AR
HIVEP27341AD
HNMT879AD und/oder AR
HUWE113125XL
IGBP11020XLR
IL1RAPL12091XLR
IQSEC24467XLD
KANSL13318AD
KCNQ52772AD
KDM5B4635AR
KDM5C4683XLR
KIF4A3699XLR
KLHL151815XLR
KMT5B1182AD
KPTN1311AR
LAS1L2154XLR
LINS12274AR
LMAN2L1080AR
MAN1B12100AR
MBD54485AD
MBOAT71200AR
MECP21461XL
MED126534XLR
MED136525AD
MED234080AR
MEF2C1422AD und/oder Mult
METTL23573AR
MID22208XLR
MYT1L3555AD
NAA152601AD
NDST12649AR
NEXMIF4551XLD
NSUN22304AR
OGT3141XLR
OPHN12409XLR
PACS12892AD
PAK31635XLR
PHF61098XLR
PHF83075XLR
POGZ4233AD
POLA14389XLR
PPP2R1A1770AD
PPP2R5D1356AD
PQBP1798XLR
PRPS1957XLR
PRSS122628AR
PURA969AD
RAB39B642XLR
RAC1579AD
RLIM1875XL
RPL10651XLR
RPS6KA32223XLD
RSRC1831AR
SETBP14791AD und/oder SMu
SETD54329AD
SHROOM44482XL
SLC6A172184AR
SLC9A62010XLD
SMARCA45040AD und/oder SMu
SMARCB11158AD und/oder SMu und/oder Sus
SMARCC23459AD
SMARCE11236AD
SMS942XLR
ST3GAL31128AR
STAG13777AD
SYN12010XL
SYNGAP14032AD
SYP942XLR
TAF15682XLR
TAF23600AR
TBL1XR11545AD
TECR927AR
THOC24782XLR
TRAPPC93741AR und/oder Dig
TRIO9294AD
TRMT11980AR
TSPAN7750XLR
TTI21527AR
TUSC31047AR
UBE2A459XLR
UPF3B1452XLR
USP27X1317XLR
USP9X7713XLD und/oder XLR
WASHC43522AR
ZBTB113162AR
ZBTB181596AD
ZC3H142208AR
ZC4H2675XLR
ZDHHC91095XL
ZMYND111647AD
ZNF2928172AD
ZNF7112286XL

Infos zur Erkrankung

Synonyme
  • Alias: ADNP-Related Disorder
  • Helsmoortel-van der Aa syndrome (ADNP)
  • Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
  • Allelic: Rhabdoid tumors, somatic (SMARCB1)
  • Aarskog-Scott syndrome (FGD1)
  • Arts syndrome (PRPS1)
  • Autism susceptibility, XL 3 (MECP2)
  • Autism, susceptibility to, XL 5 (RPL10)
  • Borjeson-Forssman-Lehmann syndrome (PHF6)
  • Chromosome 5q14.3 deletion syndrome (MEF2C)
  • Coffin-Lowry syndrome (RPS6KA3)
  • Coffin-Siris syndrome 1 (ARID1B)
  • Coffin-Siris syndrome 2 (ARID1A)
  • Coffin-Siris syndrome 3 (SMARCB1)
  • Coffin-Siris syndrome 4 (SMARCA4)
  • Coffin-Siris syndrome 5 (SMARCE1)
  • Coffin-Siris syndrome 6 (ARID2)
  • Coffin-Siris syndrome 7 (DPF2)
  • Coffin-Siris syndrome 8 (SMARCC2)
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma + micrognathia (IGBP1)
  • Developmental + epileptic encephalopathy 15 (ST3GAL3)
  • Developmental + epileptic encephalopathy 27 (GRIN2B)
  • Developmental + epileptic encephalopathy 33 (EEF1A2)
  • Encephalopathy, neonatal severe (MECP2)
  • Epilepsy, XL, with variable learning disabilities + behavior disorders (SYN1)
  • Fragile X syndrome (FMR1)
  • GAND syndrome (GATAD2B)
  • Intellectual developmental disorder 61 (MED13)
  • Intellectual developmental disorder 62 (DLG4)
  • Intellectual developmental disorder, AD 44, with microcephaly (TRIO)
  • Intellectual developmental disorder, AD 6, with/-out seizures (GRIN2B)
  • Intellectual developmental disorder, AD 63, with macrocephaly (TRIO)
  • Intellectual developmental disorder, AD 64 (ZNF292)
  • Intellectual developmental disorder, AR 12 (ST3GAL3)
  • Intellectual developmental disorder, AR 69 (ZBTB11)
  • Intellectual developmental disorder, AR 70 (RSRC1)
  • Intellectual developmental disorder, XL 109 (AFF2)
  • Intellectual developmental disorder, XL 50 (SYN1)
  • Intellectual developmental disorder, XL, syndrome, Snijders Blok type (DDX3X)
  • Intellectual developmental disorder, XL, syndromic, Wu type (GRIA3)
  • Kleefstra syndrome 1 (EHMT1)
  • Koolen-De Vries syndrome (KANSL1)
  • Lujan-Fryns syndrome (MED12)
  • MEHMO syndrome (EIF2S3)
  • Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Mental retardation, AD 1 (MBD5)
  • Mental retardation, AD 10 (CACNG2)
  • Mental retardation, AD 11 (EPB41L1)
  • Mental retardation, AD 13 (DYNC1H1)
  • Mental retardation, AD 21 (CTCF)
  • Mental retardation, AD 22 (ZBTB18)
  • Mental retardation, AD 23 (SETD5)
  • Mental retardation, AD 29 (SETBP1)
  • Mental retardation, AD 3 (CDH15)
  • Mental retardation, AD 31 (PURA)
  • Mental retardation, AD 35 (PPP2R5D)
  • Mental retardation, AD 36 (PPP2R1A)
  • Mental retardation, AD 38 (EEF1A2)
  • Mental retardation, AD 39 (MYT1L)
  • Mental retardation, AD 40 (CHAMP1)
  • Mental retardation, AD 41 (TBL1XR1)
  • Mental retardation, AD 43 (HIVEP2)
  • Mental retardation, AD 45 (CIC)
  • Mental retardation, AD 46 (KCNQ5)
  • Mental retardation, AD 46 (KDM5B)
  • Mental retardation, AD 47 (STAG1)
  • Mental retardation, AD 48 (RAC1)
  • Mental retardation, AD 5 (SYNGAP1)
  • Mental retardation, AD 50 (NAA15)
  • Mental retardation, AD 51 (KMT5B)
  • Mental retardation, AD 52 (ASH1L)
  • Mental retardation, AD 59 (CAMK2G)
  • Mental retardation, AD 7 (DYRK1A)
  • Mental retardation, AR 1 (PRSS12)
  • Mental retardation, AR 13 (TRAPPC9)
  • Mental retardation, AR 14 (TECR)
  • Mental retardation, AR 18 (MED23)
  • Mental retardation, AR 2 (CRBN)
  • Mental retardation, AR 27 (LINS1)
  • Mental retardation, AR 3 (CC2D1A)
  • Mental retardation, AR 34, with variant lissencephaly (CRADD)
  • Mental retardation, AR 37 (ANK3)
  • Mental retardation, AR 38 (HERC2)
  • Mental retardation, AR 39 (TTI2)
  • Mental retardation, AR 40 (TAF2)
  • Mental retardation, AR 41 (KPTN)
  • Mental retardation, AR 43 (WASHC4)
  • Mental retardation, AR 44 (METTL23)
  • Mental retardation, AR 45 (FBXO31)
  • Mental retardation, AR 46 (NDST1)
  • Mental retardation, AR 47 (FMN2)
  • Mental retardation, AR 48 (SLC6A17)
  • Mental retardation, AR 5 (NSUN2)
  • Mental retardation, AR 51 (HNMT)
  • Mental retardation, AR 52 (LMAN2L)
  • Mental retardation, AR 56 (ZC3H14)
  • Mental retardation, AR 57 (MBOAT7)
  • Mental retardation, AR 58 (ELP2)
  • Mental retardation, AR 6 (GRIK2)
  • Mental retardation, AR 66 (C12orf4)
  • Mental retardation, AR 68 (TRMT1)
  • Mental retardation, AR 7 (TUSC3)
  • Mental retardation, Ad 30 (ZMYND11)
  • Mental retardation, XL 1/78 (IQSEC2)
  • Mental retardation, XL 100 (KIF4A)
  • Mental retardation, XL 101 (MID2)
  • Mental retardation, XL 103 (KLHL15)
  • Mental retardation, XL 104 (FRMPD4)
  • Mental retardation, XL 105 (USP27X)
  • Mental retardation, XL 106 (OGT)
  • Mental retardation, XL 12/35 (THOC2)
  • Mental retardation, XL 19 (RPS6KA3)
  • Mental retardation, XL 21/34 (IL1RAPL1)
  • Mental retardation, XL 29 + others (ARX)
  • Mental retardation, XL 3 [methylmalonic acidemia + homocysteinemia, cblX type] (HCFC1)
  • Mental retardation, XL 30/47 (PAK3)
  • Mental retardation, XL 41 (GDI1)
  • Mental retardation, XL 58 (TSPAN7)
  • Mental retardation, XL 63 (ACSL4)
  • Mental retardation, XL 72 (RAB39B)
  • Mental retardation, XL 9/44 (FTSJ1)
  • Mental retardation, XL 90 (DLG3)
  • Mental retardation, XL 93 (BRWD3)
  • Mental retardation, XL 96 (SYP)
  • Mental retardation, XL 97 (ZNF711)
  • Mental retardation, XL 98 (NEXMIF)
  • Mental retardation, XL 99 (USP9X)
  • Mental retardation, XL 99, syndromic, female-restricted (USP9X)
  • Mental retardation, XL syndromic, Christianson type (SLC9A6)
  • Mental retardation, XL syndromic, Lubs type (MECP2)
  • Mental retardation, XL syndromic, Nascimento-type (UBE2A)
  • Mental retardation, XL syndromic, Raymond type (ZDHHC9)
  • Mental retardation, XL, Snyder-Robinson type (SMS)
  • Mental retardation, XL, syndromic 13 (MECP2)
  • Mental retardation, XL, syndromic 14 (UPF3B)
  • Mental retardation, XL, syndromic 15 [Cabezas type] (CUL4B)
  • Mental retardation, XL, syndromic 16 (FGD1)
  • Mental retardation, XL, syndromic 3 (RPL10)
  • Mental retardation, XL, syndromic 32 (CLIC2)
  • Mental retardation, XL, syndromic 33 (TAF1)
  • Mental retardation, XL, syndromic 5 (AP1S2)
  • Mental retardation, XL, syndromic, Claes-Jensen type (KDM5C)
  • Mental retardation, XL, syndromic, Hedera type (ATP6AP2)
  • Mental retardation, XL, syndromic, Houge type (CNKSR2)
  • Mental retardation, XL, syndromic, Turner type (HUWE1)
  • Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations (MEF2C)
  • Mental retardation, with/-out nystagmus (CASK)
  • Neurodevelopmental disorder with hypotonia, impaired expressive language, with/-out seizures (DEAF1)
  • Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
  • Ohdo syndrome, XL (MED12)
  • Opitz-Kaveggia syndrome (MED12)
  • Partington syndrome (ARX)
  • Pierpont syndrome (TBL1XR1)
  • Rafiq syndrome (MAN1B1)
  • Raynaud-Claes syndrome (CLCN4)
  • Renpenning syndrome (PQBP1)
  • Rett syndrome (MECP2)
  • Rett syndrome, atypical (MECP2)
  • Rett syndrome, preserved speech variant (MECP2)
  • Schinzel-Giedion midface retraction syndrome (SETBP1)
  • Schuurs-Hoeijmakers syndrome (PACS)
  • Stocco dos Santos XL mental retardation syndrome (SHROOM)
  • Tonne-Kalscheuer syndrome (RLIM)
  • Van Esch-O'Driscoll syndrome (POLA1)
  • Vulto-van Silfout-de Vries syndrome (DEAF1)
  • Waisman syndrom (RAB39B)
  • White-Sutton syndrome (POGZ)
  • Wieacker-Wolff syndrome (ZC4H2)
  • Wieacker-Wolff syndrome, female-restricted (ZC4H2)
  • Wilson-Turner syndrome (LAS1L)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Mult
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AR
  • AR und/oder Dig
  • XL
  • XL und/oder SMu
  • XLD
  • XLD und/oder XLR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F84.-

Bioinformatik und klinische Interpretation

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