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IllnessSifrim-Hitz-Weiss syndrome, differential diagnosis

Summary

Short information

Gene panel for Sifrim-Hitz-Weiss syndrome comprising 1 core gene, 6 further core candidate genes and altogether 79 curated genes according to the clinical signs

ID
SP9232
Number of loci
Locus typeCount
Gen 79
Accredited laboratory test
Examined sequence length
33,8 kb (Core-/Core-canditate-Genes)
264,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ADNP3309NM_015339.5AD
CHD45739NM_001273.5AD
EHMT13897NM_024757.5AD
KANSL13318NM_001193466.2AD
KAT6A6015NM_006766.5AD
MED13L6633NM_015335.5AD
SETBP14791NM_015559.3AD, SMu
AP2M11400NM_004068.4AD
ARID1A6858NM_006015.6AD
ARID1B6750NM_001374820.1AD
ARID25508NM_152641.4AD
ASH1L8895NM_018489.3AD
AUTS23780NM_015570.4AD
BCL11A2322NM_018014.4AD
BRSK22211NM_001256627.2AD
CAMK2A1493NM_015981.4AD
CAMK2B2256NM_001220.5AD
CAMK2G1620NM_001204492.2AD
CDH152445NM_004933.3AD
CERT12259NM_001130105.1AD
CHAMP12439NM_001164144.3AD
CIC4827NM_015125.5AD
CLTC5111NM_004859.4AD
CSDE12397NM_001007553.3AD
CSNK2B665NM_001320.7AD
CTCF1200NM_006565.4AD
CTNNB12346NM_001904.4AD
CUX14518NM_001202543.2AD
DEAF11698NM_021008.4AD, AR
DLG42166NM_001128827.4AD
DPF21175NM_006268.5AD
DPP62406NM_001039350.3AD
DYNC1H113941NM_001376.5AD
DYRK1A2292NM_001396.5AD
EEF1A21392NM_001958.5AD
EPB41L12643NM_001258329.1AD
FOXP12034NM_032682.6AD
GATAD2B1782NM_020699.4AD
GNB11032NM_002074.5AD
GRIA43017NM_000829.4AD
GRIN2B4455NM_000834.5AD
HIVEP27341NM_006734.4AD
KCNQ52772NM_001160130.2AD
KDM4B4291NM_015015.3AD
KMT5B1182NM_017635.5AD
MBD54485NM_018328.5AD
MED136525NM_005121.3AD
MYT1L3555NM_015025.4AD
NAA152601NM_057175.5AD
NBEA2220NM_015678.5AD
NUS1887NM_138459.5AD, AR
PACS12892NM_018026.4AD
POGZ4233NM_015100.4AD
PPP2R1A1770NM_014225.6AD
PPP2R5D1356NM_006245.4AD
PURA969NM_005859.5AD
RAC1579NM_006908.5AD
RORA1647NM_002943.4AD
SCN8A5943NM_014191.4AD
SET1124NM_001122821.2AD
SETD54329NM_001080517.3AD
SMARCA45040NM_001128849.3AD
SMARCB11158NM_003073.5AD
SMARCC23459NM_003075.5AD
SMARCE11236NM_003079.5AD
SOX111326NM_003108.4AD
STAG13777NM_005862.3AD
SYNGAP14032NM_006772.3AD
SYT11277NM_005639.3AD
TAOK13025NM_020791.4AD
TBL1XR11545NM_024665.7AD
TBR12049NM_006593.4AD
TLK22372NM_006852.6AD
TRIM81796NM_030912.3AD
TRIO9294NM_007118.4AD
TRIP125979NM_004238.3AD
ZBTB181596NM_205768.3AD
ZMYND111647NM_006624.7AD
ZNF2928172NM_015021.3AD

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • SMu
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined