All individuals with variants in gene EZH2

137 entries on 2 pages. Showing entries 1 - 100.
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00035718 - - - - - Germany - - - - - ? developmental delay 1 1 Andreas Laner
00035719 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035720 - - - - - Germany - - - - - ? developmental delay 1 1 Andreas Laner
00035721 - - - - - Germany - - - - - ? developmental delay 1 1 Andreas Laner
00035722 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035723 - - - - - Germany - - - - - ? somatomegaly, macrocephaly, psychomotoric retardation 1 1 Andreas Laner
00035724 - - - - - Germany - - - - - WVS suspected Weaver-Syndrom, combined developmental delay, adipositas, macrocephaly 1 1 Andreas Laner
00035725 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035726 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035727 - - - - - Germany - - - - - WVS suspected Weaver-Syndrome 1 1 Andreas Laner
00035728 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035729 - - - - - Germany - - - - - ? developmental delay 1 1 Andreas Laner
00047205 - PubMed: Miyake 2010 - F - - Japanese - - - - EDS5 BCS 1 1 Global Variome, with Curator vacancy
00047206 - PubMed: Miyake 2010 - M - - Japanese - - - - EDS5 BCS 1 1 Global Variome, with Curator vacancy
00047207 - PubMed: Miyake 2010 - F - - Japanese - - - - EDS5 BCS 1 1 Global Variome, with Curator vacancy
00047208 - PubMed: Ernst 2010 - ? - - - - - - - CML - 1 1 Global Variome, with Curator vacancy
00047209 - PubMed: Ernst 2010 - M - - - - - - - ? RA, refractory anemia 1 1 Global Variome, with Curator vacancy
00047210 - PubMed: Ernst 2010 - M - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00047211 - PubMed: Ernst 2010 - M - - - - - - - JMML;CMML - 2 1 Global Variome, with Curator vacancy
00047212 - PubMed: Ernst 2010 - F - - - - - - - JMML;CMML - 2 1 Global Variome, with Curator vacancy
00047213 - PubMed: Ernst 2010 - F - - - - - - - ? MDS/MPN-U, myelodysplastic-myeloproliferative unclassified 1 1 Global Variome, with Curator vacancy
00047214 - PubMed: Ernst 2010 - ? - - - - - - - ? RARS, refractory anemia with ring sideroblasts 1 1 Global Variome, with Curator vacancy
00047215 - PubMed: Ernst 2010 - M - - - - - - - ? RAEB, refractory anemia with excess blasts 1 1 Global Variome, with Curator vacancy
00047216 - PubMed: Ernst 2010 - M - - - - - - - CML - 1 1 Global Variome, with Curator vacancy
00047217 - PubMed: Ernst 2010 - M - - - - - - - ? 5Q-syndrome 1 1 Global Variome, with Curator vacancy
00047218 - PubMed: Ernst 2010 - M - - - - - - - ? RAEB, refractory anemia with excess blasts 2 1 Global Variome, with Curator vacancy
00047219 - PubMed: Ernst 2010 - ? - - - - - - - ? RA, refractory anemia 2 1 Global Variome, with Curator vacancy
00047220 - PubMed: Ernst 2010 - M - - - - - - - JMML;CMML - 1 1 Global Variome, with Curator vacancy
00047221 - PubMed: Ernst 2010 - F - - - - - - - JMML;CMML - 2 1 Global Variome, with Curator vacancy
00047222 - PubMed: Ernst 2010 - M - - - - - - - ? MDS/MPN-U, myelodysplastic-myeloproliferative unclassified 1 1 Global Variome, with Curator vacancy
00047223 - PubMed: Ernst 2010 - M - - - - - - - CML - 1 1 Global Variome, with Curator vacancy
00047224 - PubMed: Ernst 2010 - ? - - - - - - - THCYT1 Myelofibrosis (HP:0011974) 1 1 Global Variome, with Curator vacancy
00047225 - PubMed: Ernst 2010 - ? - - - - - - - JMML;CMML - 2 1 Global Variome, with Curator vacancy
00047226 - PubMed: Ernst 2010 - M - - - - - - - JMML;CMML - 1 1 Global Variome, with Curator vacancy
00047227 - PubMed: Ernst 2010 - ? - - - - - - - CML - 1 1 Global Variome, with Curator vacancy
00047228 - PubMed: Ernst 2010 - M - - - - - - - THCYT1 Myelofibrosis (HP:0011974) 1 1 Global Variome, with Curator vacancy
00047229 - PubMed: Ernst 2010 - F - - - - - - - ? RA, refractory anemia 1 1 Global Variome, with Curator vacancy
00047230 - PubMed: Ernst 2010 - ? - - - - - - - PMF - 1 1 Global Variome, with Curator vacancy
00047231 - PubMed: Ernst 2010 - ? - - - - - - - JMML;CMML - 1 1 Global Variome, with Curator vacancy
00047232 - PubMed: Ernst 2010 - F - - - - - - - ? MDS/MPN-U, myelodysplastic-myeloproliferative unclassified 1 1 Global Variome, with Curator vacancy
00047233 - PubMed: Ernst 2010 - M - - - - - - - JMML;CMML - 1 1 Global Variome, with Curator vacancy
00047234 - PubMed: Ernst 2010 - M - - - - - - - PMF - 1 1 Global Variome, with Curator vacancy
00047235 - PubMed: Ernst 2010 - F - - - - - - - ? RA, refractory anemia 1 1 Global Variome, with Curator vacancy
00047236 - PubMed: Ernst 2010 - M - - - - - - - JMML;CMML - 1 1 Global Variome, with Curator vacancy
00047237 - PubMed: Ernst 2010 - F - - - - - - - JMML;CMML - 1 1 Global Variome, with Curator vacancy
00047238 - PubMed: Ernst 2010 - ? - - - - - - - HES - 1 1 Global Variome, with Curator vacancy
00047239 - PubMed: Ernst 2010 - M - - - - - - - CML - 1 1 Global Variome, with Curator vacancy
00047240 - PubMed: Ernst 2010 - M - - - - - - - JMML;CMML - 1 1 Global Variome, with Curator vacancy
00047241 - PubMed: Ernst 2010 - M - - - - - - - CML - 1 1 Global Variome, with Curator vacancy
00047242 - PubMed: Ernst 2010 - ? - - - - - - - ? RA, refractory anemia 2 1 Global Variome, with Curator vacancy
00047243 - PubMed: Ernst 2010 - F - - - - - - - CML - 1 1 Global Variome, with Curator vacancy
00047244 - PubMed: Ernst 2010 - F - - - - - - - JMML;CMML - 1 1 Global Variome, with Curator vacancy
00047245 - PubMed: Ernst 2010 - M - - - - - - - JMML;CMML - 1 1 Global Variome, with Curator vacancy
00047246 - PubMed: Ernst 2010 - F - - - - - - - CML - 1 1 Global Variome, with Curator vacancy
00047247 - PubMed: Morin 2010 Carries also the Asn640 mutation (in cis) F - - - - - - - FL1 - 1 1 Global Variome, with Curator vacancy
00047248 - PubMed: Morin 2010 - M - - - - - - - ? DLBCL, Diffuse large B-cell lymphoma 1 1 Global Variome, with Curator vacancy
00047249 - PubMed: Morin 2010 - F - - - - - - - ? DLBCL, Diffuse large B-cell lymphoma 1 1 Global Variome, with Curator vacancy
00047250 - PubMed: Morin 2010 - F - - - - - - - ? DLBCL, Diffuse large B-cell lymphoma 1 1 Global Variome, with Curator vacancy
00047251 - PubMed: Morin 2010 - M - - - - - - - ? DLBCL, Diffuse large B-cell lymphoma 1 1 Global Variome, with Curator vacancy
00047252 - PubMed: Morin 2010 GCB cell lines: mutated EZH2: DB M - - - - - - - ? Lymphoma cell line 1 1 Global Variome, with Curator vacancy
00047253 - PubMed: Morin 2010 GCB cell lines: mutated EZH2: KARPAS 422 F - - - - - - - ? Lymphoma cell line 1 1 Global Variome, with Curator vacancy
00047254 - PubMed: Morin 2010 GCB cell lines: mutated EZH2: SU-DHL-6 M - - - - - - - ? Lymphoma cell line 1 1 Global Variome, with Curator vacancy
00047255 - PubMed: Morin 2010 GCB cell lines: mutated EZH2: WSU-DLCL2 M - - - - - - - ? Lymphoma cell line 1 1 Global Variome, with Curator vacancy
00047256 - PubMed: Morin 2010 GCB cell lines: mutated EZH2: OCI-LY1 ? - - - - - - - ? Lymphoma cell line 1 1 Global Variome, with Curator vacancy
00047257 - PubMed: Morin 2010 Found, in cis, in conjunction with a Tyr641 mutation ? - - - - - - - FL1 - 1 7 Global Variome, with Curator vacancy
00047258 - PubMed: Morin 2010 Found, in cis, in conjunction with a Tyr641 mutation ? - - - - - - - ? DLBCL, Diffuse large B-cell lymphoma 1 2 Global Variome, with Curator vacancy
00047259 - PubMed: Ernst 2010 - ? - - - - - - - ? RA, refractory anemia 1 1 Global Variome, with Curator vacancy
00047260 Proband1 PubMed: Gibson 2012, PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States white - - - - WVS Accelerated osseous maturation Hypertonia Hoarse, low-pitched cry Intellectual disability (Mild) Excessive appetite Ventriculomegaly Seizures (Tonic-Clonic) Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Retrognathia Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Talipes equinovarus Short fourth metatarsals Limited elbow and knee extension Widened distal femurs and ulnas Excessive loose skin Inverted nipples Thin hair Umbilical hernia Inguinal hernia Scoliosis (degrees) Hypothyroidism Growth hormone deficiency 1 1 William Gibson
00047261 Proband2 PubMed: Gibson 2012, PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - WVS Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability (bordeline-mild) Excessive appetite Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Retrognathia Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Excessive loose skin Increased pigmented nevi Umbilical hernia Scoliosis (10 degrees) 1 1 Ana Cohen
00047262 Proband3 PubMed: Gibson 2012, PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - WVS Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability (mild) Delayed myelination Cerebellar hypoplasia (mild) Seizures (brief absence at 15 years) Poor fine motor coordination Poor balance and gravitational insecurity Fatty filum terminale Macrocephaly Large bifrontal diameter Flat occiput Large ears Downslanted palpebral fissures Long philtrum Retrognathia Patent ductus arteriosus Prominent digit pads Thin, deep-set nails Hind foot valgus Limited elbow and knee extension in early life Limited elbow and knew extension after puberty Increased pigmented nevi Umbilical hernia Scoliosis (16 degrees) 1 1 Ana Cohen
00047263 Proband4 PubMed: Huffman 2001, PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - WVS Accelerated osseous maturation Hypertonia in knees Hoarse, low-pitched cry Intellectual disability Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears with hearing loss Ocular hypertelorism Downslanted palpebral fissures Long philtrum Micrognathia Patent ductus arteriosus Ventricular septal defect Prominent digit pads Single transverse palmar crease Clinodactyly, toes Talipes equinovarus Limited elbow and knee extension in early life Widened distal femurs and ulnas Excessive loose skin Hypoplastic/supernumerary nipples Increased pigmented nevi Umbilical hernia Diastasis recti Kyphosis Hypoglycemia, perinatal euroblastoma at birth, resolved 1 1 Ana Cohen
00047264 Proband5 PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no (Canada) white - - - - WVS Accelerated osseous maturation Hypertonia, peripheral abdominal Hoarse, low-pitched cry Intellectual disability Excessive appetite Seizures (1 GTC febrile-associated around 9 months) Polymicrogyria (asymmetric perisylvian) Poor fine motor coordination Poor balance and gravitational insecurity Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Micrognathia Single transverse palmar crease Thin, deep-set nails Limited elbow and knee extension in early life Excessive loose skin Hypoplastic/supernumerary nipples Scoliosis (mild, resolved) Hypoglycemia at birth, resolved 1 1 Ana Cohen
00047265 Proband6 PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - WVS Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Micrognathia Prominent digit pads Camptodactyly Thin, deep-set nails Excessive loose skin Hypoplastic/supernumerary nipples Umbilical hernia Kyphosis euroblastoma, prenatal 1 1 Ana Cohen
00047266 Proband7 PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France white - - - - WVS Hypertonia Large bifrontal diameter Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Micrognathia Prominent digit pads Single transverse palmar crease Umbilical hernia Diastasis recti 1 1 Ana Cohen
00047267 - Vancouver: Canada Weaver-like features M no Italy white - - - - ? Intellectual disability Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Ocular hypertelorism Broad thumbs Short fourth metatarsals Hind foot valgus Limited elbow and knee extension Umbilical hernia Scoliosis (mild) 1 1 Ana Cohen
00047268 - Vancouver: Canada Weaver-like features F no Portugal white - - - - ? Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability Excessive appetite Poor fine motor coordination Large bifrontal diameter Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Umbilical hernia 1 1 Ana Cohen
00047269 Case1/Case5 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - - - - WVS Height +2.2 SD, Head circumference + 0.3 SD, Mild intellectual disability, Birth weight +0.7 SD, Birth length +2 SD, Doughy skin, Advanced bone age,Talipes, Scoliosis, Pectus carinatum 1 1 Ana Cohen
00047270 Case3/Case19 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - - - - WVS Height +2.6 SD, Head circumference + 2.3 SD, Mild intellectual disability, Birth weight +1.3 SD, Birth length + 4.9 SD, Camptodactyly, Doughy skin, Umbilical hernia, Advanced bone age, Fusion of C2/3, Pectus Excavatum 1 1 Ana Cohen
00047271 Case4/Case22 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +3.6 SD, Head circumference + 3.2 SD, Birth weight +1.4 SD, Camptodactyly, ""boutonniere " 1 1 Ana Cohen
00047272 Case5/Case23 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +6 SD, Head circumference + 4.9 SD, Moderate intellectual disability, Birth weight +3.5 SD, ""boutonniere "", Epilepsy, Pectus excavatum 1 1 Ana Cohen
00047273 Case6/Case28 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +5 SD, Head circumference + 3 SD, Mild intellectual disability, Birth weight +1.5 SD, Hypertonia, Camptodactyly, Doughy skin, Umbilical hernia, Advanced bone age, Mitral valve prolapse, Cavum septum pellucidum, Clinodactyly 1 1 Ana Cohen
00047274 Case7/Case29 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +3.8 SD, Head circumference + 3.2 SD, Moderate intellectual disability, Birth weight +0.1 SD, Birth length +2.3 SD, Hypertonia, Camptodactyly, Umbilical hernia, Advanced bone age 1 1 Ana Cohen
00047275 Case8/Case31 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 Cancer development M - - - - - - - WVS Height +4.2 SD, Head circumference +1.8 SD, Mild intellectual disability, Birth weight -0.4 SD, Birth length +1.5 SD, Hypertonia, Doughy skin, Advanced bone age, Hypospadias, Cerebral ventriculomegaly, NEUROBLASTOMA (onset 13m), ACUTE LYMPHOBLASTIC LEUKEMIA (onset 13m) 1 1 Ana Cohen
00047276 Case9/Case33 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +2.9 SD, Mild intellectual disability, Advanced bone age, Median cleft palate, Strabismus 1 1 Ana Cohen
00047277 Case10/Case34 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +3.5 SD, Head circumference +1.5 SD, Birth weight +2.2 SD, Conductive hearing loss 1 1 Ana Cohen
00047278 Case12/Case36 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - - - - WVS Height +5.6 SD, Head circumference +1.7 SD, Mild intellectual disability, Birth weight +3.4 SD, Clinodactyly 1 1 Ana Cohen
00047279 Case13/Case38 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +5 SD, Head circumference + 1.8 SD, Mild intellectual disability, Birth weight +2.9 SD, Camptodactyly, Doughy skin, ""boutonniere "", Ventricular septal defect 1 1 Ana Cohen
00047280 Case14/Case40 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - - - - WVS Height +7.6 SD, Head circumference +2.7 SD, Birth weight +3.8 SD, Camptodactyly, Doughy skin, Umbilical hernia 1 1 Ana Cohen
00047281 Case18/Case43 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 Mild intellectual disability? F - - - - - - - WVS Height +5.3 SD, Head circumference +2 SD, Birth weight +4.6 SD, Camptodactyly, Umbilical hernia, Advanced bone age 1 1 Ana Cohen
00047282 Case19/Case45 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 Cancer development M - - - - - - - WVS Height +3.5 SD, Head circumference +1.8 SD, Mild to moderate intellectual disability, Birth weight +0.6 SD, Birth length +0.5 SD, Hypertonia, Strabismus, Scoliosis, Talipes, NON-HODGKINS LYMPHOMA (onset at 13y) 1 1 Ana Cohen
00047283 Case16/Case46 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +4.6 SD, Head circumference +2.2 SD, Moderate intellectual disability, Hypertonia, Camptodactyly, Doughy skin, Advanced bone age, Clinodactyly 1 1 Ana Cohen
00047284 Case48 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS Head circumference -0.9 SD, Severe intellectual disability, Birth weight +3.2 SD, Hypertonia, Camptodactyly, Talipes, Scoliosis, Pachy- and Polymicrogyria 1 1 Ana Cohen
00047285 Case44 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS Height +3.3 SD, Head circumference +3 SD, Mild intellectual disability, Birth weight +3.8 SD, Camptodactyly, Advanced bone age 1 1 Ana Cohen
00050444 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, arachnodactyly, hyperextensibility of the finger joints, hemangioma, broad forehead, tall stature, prominent umbilicus, large for gestational age, large hands 1 2 Johan den Dunnen
00050513 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - - Decipher - ? fetal ascites, generalized hypotonia, delayed gross motor development, delayed speech and language development, macrocephaly, slender finger, muscle weakness 1 2 Johan den Dunnen
00081832 - - - F no Japan Japanese - - - - - - 1 1 Eri Imagawa
00164478 - - - F no - (not applicable) - - - - - WVS - 1 1 Patrick R. Blackburn
00295480 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00296379 DiscoveryPat8 PubMed: Choufani 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - WVS see paper; ... 1 1 Johan den Dunnen
00296410 Case1 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +2.6 SD, OFC +5.5 SD, current height +4.5 SD; mild intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; advanced bone age; periventricular leukomalacia, clinodactyly 1 1 Johan den Dunnen
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