Klinische FragestellungImprinting-Störungen/epigenetische Signaturen, Differentialdiagnose

NGS +

• Alias: Disturbed genomic imprinting
• Allelic: Alpha-thalassemia myelodysplasia syndrome, somatic (ATRX)
• Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Allelic: Rhabdoid tumors, somatic (SMARCB1)
• Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
• Arboleda-Tham syndrome: ID, speech delay, microcephaly, cardiac + gastrointestinal anomalies (KAT6A)
• Beck-Fahrner syndrome: global developmental delay, impaired intellectual development (TET3)
• Borjeson-Forssman-Lehmann syndrome (PHF6)
• CHARGE syndrome (CHD7)
• Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
• Coffin-Siris syndrome 1 (ARID1B)
• Coffin-Siris syndrome 2 (ARID1A)
• Coffin-Siris syndrome 3 (SMARCB1)
• Coffin-Siris syndrome 4 (SMARCA4)
• Coffin-Siris syndrome 9 (SOX11)
• Cohen-Gibson syndrome: Overgrowth with Intellectual disability (EED)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Developmental + epileptic encephalopathy 85, +/- midline brain defects (SMC1A)
• Developmental + epileptic encephalopathy 94 (CHD2)
• Dystonia 28, childhood-onset (KMT2B)
• Facioscapulohumeral muscular dystrophy 4, digenic (DNMT3B)
• Floating-Harbor syndrome (SCARP)
• Gabriele-de Vries syndrome (YY1)
• Helsmoortel-van der Aa syndrome (ADNP)
• Heyn-Sproul-Jackson syndrome (DNMT3A)
• Human overgrowth syndrome type [panelapp] (EED)
• Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B)
• Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24)
• Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (CDCA7)
• Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (HELLS)
• Intellectual developmental disorder with autism + macrocephaly (CHD8)
• Intellectual developmental disorder with seizures + language delay (SETD1B)
• Intellectual developmental disorder, AD 23 (SETD5)
• Intellectual developmental disorder, AD 51 (KMT5B)
• Intellectual developmental disorder, AD 65 (KDM4B)
• Intellectual developmental disorder, AD 68 (KMT2B)
• Intellectual developmental disorder, XL 93 (BRWD3)
• Intellectual developmental disorder, XL 97 (ZNF711)
• Intellectual developmental disorder, XL syndromic, Armfield type (FAM50A)
• Intellectual developmental disorder, XL syndromic, Nascimento type (UBE2A)
• Intellectual developmental disorder, XL syndromic, Snyder-Robinson type (SMS)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Kleefstra syndrome 1 (EHMT1)
• Koolen-De Vries syndrome (KANSL1)
• Luscan-Lumish syndrome: macrocephaly, ID, speech delay, low sociability, behavioral problems (SETD2)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Mental retardation, XL, syndromic, Claes-Jensen type (KDM5C)
• Mental retardation-hypotonic facies syndrome, XL (ATRX)
• Mungan syndrome (RAD21)
• Myopathy, lactic acidosis + sideroblastic anemia 2 (YARS2)
• Neuropathy, hereditary sensory, type IE (DNMT1)
• Nicolaides-Baraitser syndrome (SMARCA2)
• Overgrowth with Intellectual disability [panelapp] (EED)
• Rahman syndrome (H1-4 synonym HIST1H1E)
• Renpenning syndrome (PQBP1)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• Say-Barber-Biesecker-Young-Simpson [SBBYSS] syndrome; Ohdo syndrome (KAT6B)
• Sotos syndrome 1 (NSD1)
• Tatton-Brown-Rahman syndrome (DNMT3A)
• Weaver syndrome (EZH2)
• Weaver-like syndrome [panelapp] (EED)
• Wiedemann-Steiner syndrome (KMT2A)