All individuals with variants in gene SETD5

35 entries on 1 page. Showing entries 1 - 35.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00016308 patient 1 PubMed: Kuechler 2015, Journal: Kuechler 2015 - F no Germany - - - - - ID see paper; ... 2 1 Alexander Zink
00016309 patient 2 PubMed: Kuechler 2015, Journal: Kuechler 2015 - F - Germany - - - - - ID see paper; ... 1 1 Alexander Zink
00111398 S_098 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - - - - ID mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342); no speech delay (-HP:0000750) 1 1 Bernt Popp
00144519 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Short stature (HP:0004322); Postaxial hand polydactyly (HP:0001162); Microcephaly (HP:0000252) 1 1 IMGAG
00151387 - - - M - (Germany) - - - - - ? HP:0000717 (Autism) 1 1 IMGAG
00164712 - - - M - (Germany) - - - - - ? HP:0001249 (Intellectual disability) 1 1 IMGAG
00174383 - - - M - (Germany) - - - - - ? Intellectual disability (HP:0001249); Short stature (HP:0004322) 1 1 IMGAG
00229567 patient 3 PubMed: Kuechler 2015, Journal: Kuechler 2015 - M - - white - - - - ID - 1 1 Johan den Dunnen
00229568 patient 4 PubMed: Kuechler 2015, Journal: Kuechler 2015 - M - - white - - - - ID - 1 1 Johan den Dunnen
00229569 patient 5 PubMed: Kuechler 2015, Journal: Kuechler 2015 - F - Iran - - - - - ID - 1 1 Johan den Dunnen
00229570 patient 6 PubMed: Kuechler 2015, Journal: Kuechler 2015 - F - - white - - - - ID - 1 1 Johan den Dunnen
00276134 160874 - Postaxial hexadactyly of the limbs, mild developmental delay M ? Germany - - - - - DD polydactyly; mild global developmental delay 1 1 Andreas Laner
00307769 UK10K_FINDWGA5411029 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307770 UK10K_FINDWGA5410795 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307771 UK10K_FINDWGA5411659 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307772 UK10K_FINDWGA5411248 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307773 UK10K_FINDWGA5411283 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307774 UK10K_FINDWGA5410802 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307775 UK10K_FINDWGA5410830 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307968 17DG0774 PubMed: Anazi 2017 familial M - - - - - - - ID see paper; ..., Intellectual disability, Postaxial hand polydactyly, Microcephaly, Osteopenia, Short palpebral fissure, Aortic dilatation 1 1 Johan den Dunnen
00307969 17DG0775 PubMed: Anazi 2017 simplex case F - - - - - - - ID see paper; ..., Nystagmus, Intellectual disability, Attention deficit hyperactivity disorder, Thick corpus callosum, Cerebellar atrophy 1 1 Johan den Dunnen
00315040 GDB1400 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00377162 181846 - - M no Germany - - - - - MRD23 Functional abnormality of the bladder, Nocturia, Abnormal eyebrow morphology, Synophrys, Short attention span, Hyperactivity, Global developmental delay, Neurological speech impairment, Facial hypertrichosis, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperactivity disorder, Neurodevelopmental delay, Stuttering, Seizure precipitated by febrile infection 1 1 Andreas Laner
00412361 Fam5 PubMed: Halvardson 2016 - M - Sweden - - - - - NDD mild developmental delay, myoclonic seizures, fever induced seizures, slightly delayed motor development, delayed speech, flat face, congenital nystagmus, strabismus, hypertelorism, long philtrum, bilateral retention testis, long second toe 1 1 Johan den Dunnen
00416299 203952 - - M no Russia - - - - - MRD23 Hypotonia, Failure to thrive, Delayed gross motor development, Decreased body weight 1 1 Andreas Laner
00427976 A025 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00440371 PED2186.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00440390 PED2764.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00440392 PED2870.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00442607 274684 - - F no Germany - - - - - MRD23 Microcephaly, Autism, Intellectual disability, Atrial septal defect, Visual impairment, Hypothyroidism, Disinhibition, Reduced eye contact 1 1 Andreas Laner
00448211 Pat91 PubMed: Poli 2024 - F - Chile - - - - - ? intellectual disability; hypotonia; cerebral atrophy; feeding difficulties; umbilical hernia; dysmorphic facial features; parental consanguinity 1 1 Johan den Dunnen
00453815 304406 - - M no Ukraine - - - - - MRD23 Absent speech, Neurodevelopmental delay, Motor delay 1 1 Andreas Laner
00465219 - - - F - - (not applicable) white - - - - NDD HP:0002342, HP:0004322, HP:0007018, HP:0000750, HP:0000271, HP:0000823 1 1 Marketa Wayhelova
00469353 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469354 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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