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ErkrankungSifrim-Hitz-Weiss-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Gen-panel für Sifrim-Hitz-Weiss-Syndrom mit 1 bzw. zusammen genommen ~80 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
SP9232
Anzahl Gene
80 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
5,8 kb (Core-/Basis-Gene)
265,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CHD45739AD
ADNP3309AD und/oder Impr
AP2M11400AD
ARID1A6858AD und/oder SMu und/oder Sus und/oder Impr
ARID1B6750AD und/oder SMu und/oder Impr
ARID25508AD
ASH1L8895AD
AUTS23780AD
BCL11A2322AD
BRSK22211AD
CACNG2972AD
CAMK2A1493AD und/oder AR
CAMK2B2256AD
CAMK2G1620AD
CDH152445AD
CERT1 2259AD
CHAMP12439AD
CIC4827AD
CLTC5111AD
CSDE12397AD
CSNK2B665AD
CTCF1200AD
CTNNB12346AD und/oder SMu und/oder Sus
CUX14518AD und/oder SMu
DEAF11698AD und/oder AR
DLG42166AD
DPF21175AD
DPP62406AD
DYNC1H113941AD
DYRK1A2292AD
EEF1A21392AD
EHMT13897AD und/oder Impr
EPB41L12643AD
FOXP12034AD
GATAD2B1782AD
GNB11032AD und/oder SMu
GRIA43017AD
GRIN2B4455AD
HIVEP27341AD
KANSL13318AD und/oder Impr
KAT6A6015AD und/oder Impr
KCNQ52772AD
KDM4B4291AD und/oder Impr
KMT5B1182AD und/oder Impr
MBD54485AD
MED136525AD
MED13L6633AD
MYT1L3555AD
NAA152601AD
NBEA2220AD
NUS1887AD und/oder AR
PACS12892AD
POGZ4233AD
PPP2R1A1770AD
PPP2R5D1356AD
PURA969AD
RAC1579AD
RORA1647AD
SCN8A5943AD
SET1124AD
SETBP14791AD und/oder SMu
SETD54329AD und/oder Impr
SMARCA45040AD und/oder SMu und/oder Impr
SMARCB11158AD und/oder SMu und/oder Sus und/oder Impr
SMARCC23459AD
SMARCE11236AD
SOX111326AD und/oder Impr
STAG13777AD
SYNGAP14032AD
SYT11277AD
TAOK13025AD
TBL1XR11545AD
TBR12049AD
TLK22372AD
TRIM81796AD
TRIO9294AD
TRIP125979AD
ZBTB181596AD
ZMYND111647AD
ZNF2928172AD

Infos zur Erkrankung

Synonyme
  • Alias: CHD4 neurodevelopmental disorder
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
  • Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
  • Allelic: Meningioma, familial, susceptibility to (SMARCE1)
  • Allelic: Mental retardation, AR 63 (CAMK2A)
  • Allelic: Myoclonus, familial, 2 (SCN8A)
  • Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
  • Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
  • Allelic: Seizures, benign familial infantile, 5 (SCN8A)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Arboleda-Tham syndrome (KAT6A)
  • Baker-Gordon syndrome (SYT1)
  • 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)
  • Coffin-Siris syndrome 9 (SOX11)
  • Cognitive impairment with/-out cerebellar ataxia (SCN8A)
  • Congenital disorder of glycosylation, type 1aa (NUS1)
  • Developmental + epileptic encephalopathy 13 (SCN8A)
  • Developmental + epileptic encephalopathy 27 (GRIN2B)
  • Developmental + epileptic encephalopathy 33 (EEF1A2)
  • Developmental delay with/-out intellectual impairment or behavioral abnormalities (TAOK1)
  • Dias-Logan syndrome (BCL11A)
  • Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
  • GAND syndrome (GATAD2B)
  • Global developmental delay with/-out impaired intellectual development (CUX1)
  • Global developmental delay, ID, autism [panelapp] (CSDE1)
  • Global developmental delay, ID, autism, behavioral abnormality [panelapp] (BRSK2)
  • Helsmoortel-van der Aa syndrome (ADNP)
  • Impaired intellectual development, distinctive facial features with/-out cardiac defects (MED13L)
  • Intellectual developmental disorder 60 with seizures (AP2M1)
  • Intellectual developmental disorder 61 (MED13)
  • Intellectual developmental disorder 62 (DLG4)
  • Intellectual developmental disorder with autism + speech delay (TBR1)
  • Intellectual developmental disorder with/-out epilepsy or cerebellar ataxia (RORA)
  • Intellectual developmental disorder, AD 11 (EPB41L1)
  • Intellectual developmental disorder, AD 26 (AUTS2)
  • Intellectual developmental disorder, AD 42 (GNB1)
  • Intellectual developmental disorder, AD 44, with microcephaly (TRIO)
  • Intellectual developmental disorder, AD 50, with behavioral abnormalities (NAA15)
  • 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, AD 65 (KDM4B)
  • Kleefstra syndrome 1 (EHMT1)
  • Koolen-De Vries syndrome (KANSL1)
  • Mental retardation with language impairment with/-out autistic features (FOXP1)
  • Mental retardation, AD 1 (MBD5)
  • Mental retardation, AD 10 (CACNG2)
  • 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 30 (ZMYND11)
  • Mental retardation, AD 33 (DPP6)
  • Mental retardation, AD 34 (CERT1 syn. COL4A3BP)
  • 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 47 (STAG1)
  • Mental retardation, AD 48 (RAC1)
  • Mental retardation, AD 49 (TRIP12)
  • Mental retardation, AD 5 (SYNGAP1)
  • Mental retardation, AD 51 (KMT5B)
  • Mental retardation, AD 52 (ASH1L)
  • Mental retardation, AD 53 (CAMK2A)
  • Mental retardation, AD 54 (CAMK2B)
  • Mental retardation, AD 55, with seizures (NUS1)
  • Mental retardation, AD 56 (CLTC)
  • Mental retardation, AD 57 (TLK2)
  • Mental retardation, AD 58 (SET)
  • Mental retardation, AD 59 (CAMK2G)
  • Mental retardation, AD 7 (DYRK1A)
  • Neurodevelopmental disorder with hypotonia, impaired expressive language, +/- seizures (DEAF1)
  • Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
  • Neurodevelopmental disorder with/-out early-onset generalized epilepsy (NBEA)
  • Neurodevelopmental disorder with/-out seizures + gait abnormalities (GRIA4)
  • Neurodevelopmental disorder, neonatal respiratory insufficiency, hypotonia, feeding diffic. (PURA)
  • Pierpont syndrome (TBL1XR1)
  • Poirier-Bienvenu neurodevelopmental syndrome (CSNK2B)
  • Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
  • Schinzel-Giedion midface retraction syndrome (SETBP1)
  • Schuurs-Hoeijmakers syndrome (PACS1)
  • Vulto-van Silfout-de Vries syndrome (DEAF1)
  • White-Sutton syndrome (POGZ)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Impr
  • AD und/oder SMu
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Sus
  • AD und/oder SMu und/oder Sus und/oder Impr
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatik und klinische Interpretation

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