All individuals with variants in gene VPS13B

70 entries on 1 page. Showing entries 1 - 70.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 3 1 Yu Sun
00024235 - PubMed: Gilissen 2014 - - - - - - 0 - - COH-1, ID , ID without speech, autism, hypotonia, recurrent infection, sleep disturbances, delayed puberty and obesitas, short stature and microcephaly, deep set eyes, hypertelorism, large ears, large nose, short philtrum, full lips. Kyphosis, narrow hands with tapering fingers, partial cutaneous syndactyly of 2nd and 3rd toes and sandal gaps. No ophthalmologic anomalies. 2 1 Johan den Dunnen
00050518 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, agenesis of corpus callosum, severe neonatal hypotonia in males, high palate, metatarsus adductus, short broad feet, paroxysmal dyskinesia 2 1 Johan den Dunnen
00050555 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, microcephaly, macrotia 1 1 Johan den Dunnen
00131879 - - - - - Germany - - 0 - - COH-1 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00150183 26539891-FamBAB5552 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - ? Microcephaly, mild cortical atrophy without classical Cohen syndrome findings 1 2 Johan den Dunnen
00150184 26539891-FamBAB5828 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - ? Intellectual disability and microcephaly without classical Cohen syndrome findings 1 1 Johan den Dunnen
00226217 Pat11A PubMed: Parri 2010, Journal: Parri 2010 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - - - - 0 - - COH-1 moderate intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, no retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour 3 2 Johan den Dunnen
00226287 Pat1 PubMed: Katzaki 2007, PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - 0 - - COH-1 intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, normal social behaviour, pet varus 2 1 Johan den Dunnen
00226288 Pat2 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - COH-1 severe intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, mild mitral insufficiency 2 1 Johan den Dunnen
00226289 Pat3 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - COH-1 mild/moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), no neutropenia, joint hyperlaxity, abnormal social behaviour, leg asymmetry 2 1 Johan den Dunnen
00226290 Pat4 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - COH-1 moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, intrauterine growth retardation, hip asymmetry 2 1 Johan den Dunnen
00226291 Pat5 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - 0 - - COH-1 moderate intellectual disability, microcephaly (3rd centile), typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity 1 1 Johan den Dunnen
00226292 Pat6 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - COH-1 mild/moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour 2 1 Johan den Dunnen
00226293 Pat7 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - COH-1 moderate intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, neonatal hypotonia 2 1 Johan den Dunnen
00226294 Pat8 PubMed: Katzaki 2007, PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Italy - - 0 - - COH-1 moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, no joint hyperlaxity, abnormal social behaviour, syndactyly (2nd/3rd toes) 2 1 Johan den Dunnen
00226295 Pat9A PubMed: Parri 2010 2-generation family, affected sisters, unaffected heterozygous carrier parents F no Italy - - 0 - - COH-1 intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, breast cancer, bilateral cataract 2 2 Johan den Dunnen
00226296 Pat9B PubMed: Parri 2010 sister F no Italy - - 0 - - COH-1 intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, breast cancer, bilateral cataract 2 1 Johan den Dunnen
00226297 Pat10A PubMed: Parri 2010 2-generation family, affected brothers, unaffected heterozygous carrier parents M no - - - 0 - - COH-1 moderate intellectual disability, no microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, mitralic insuficiency 2 2 Johan den Dunnen
00226298 Pat10B PubMed: Parri 2010 brother M no - - - 0 - - COH-1 moderate intellectual disability, no microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity 2 1 Johan den Dunnen
00226299 Pat11B PubMed: Parri 2010 sister M no - - - 0 - - COH-1 moderate intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, no retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour 3 1 Johan den Dunnen
00226316 Fam PubMed: Bugiani 2008, PubMed: Parri 2010 7-generation family, 12 affected F;M yes Greece - - 0 - - COH-1 see paper; ... 1 12 Johan den Dunnen
00294522 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00294523 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294524 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294525 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00294526 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 26 Mohammed Faruq
00294527 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294528 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294529 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00294530 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 148 Mohammed Faruq
00294531 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294532 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 30 Mohammed Faruq
00294533 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 10 Mohammed Faruq
00294534 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00295425 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00300652 - Huang 2020 (submitted) GWAS study 3D normal human faces in 2,659 individuals - - China Han - 0 - - ? facial morphology nose 1 1 Yin Huang
00305172 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00309513 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00317986 PKMR42 PubMed: Riazuddin 2017 - - yes Pakistan - - 0 - - ID Severe ID, speech delay, moderate hypotonia, microcephaly, ADHD, aggressive, hypotelorism 1 1 Johan den Dunnen
00325501 3723 PubMed: Zenteno 2020 family - - Mexico - - 0 - - retinal disease syndromic retinal systrophy 2 1 Johan den Dunnen
00328322 W000277 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - 0 - - retinal disease - 3 1 LOVD
00328510 14017275 PubMed: Taylor 2017 family history retinal disease M - United Kingdom (Great Britain) - - 0 - - retinal disease retinal dystrophy (HP:0000556), neurodevelopmental abnormality (HP:0012759), abnormal facial shape (HP:0001999) 2 1 LOVD
00328511 14019897 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - 0 - - retinal disease retinal dystrophy (HP:0000556), neurodevelopmental abnormality (HP:0012759), abnormal facial shape (HP:0001999) 2 1 LOVD
00331739 RP-1430 PubMed: Sanchez-Navarro 2018 - - - Spain - - 0 - - retinal disease retinitis pigmentosa, intellectual disability 1 1 LOVD
00334108 645 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - retinal disease clinical category IB9 2 1 LOVD
00334109 646 PubMed: Stone 2017 family, 2 affected F - (United States) - - 0 - - retinal disease clinical category IB9 1 2 LOVD
00334110 647 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - retinal disease clinical category IB9 2 1 LOVD
00335998 - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - 0 - - retinal disease - 1 2 LOVD
00358949 Case71674 PubMed: Tiwari 2016 see paper F - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00358970 Case71161 PubMed: Tiwari 2016 see paper F - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00358972 Case70559 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00361664 12DG2122 PubMed: Anazi 2017 familial M yes Saudi Arabia - - 0 - - ID syndromic; intellectual disability and dysmorphism 1 1 Johan den Dunnen
00362734 - PubMed: Tsangaris 2011 - - - Canada - - 0 - - ? see paper; ... 2 1 Johan den Dunnen
00373843 Rp83 PubMed: Zhao 2015 simplex case - - Northern Ireland - - 0 - - retinal disease see paper; ... 2 1 LOVD
00383870 MOL0760 IV:1 PubMed: Abu Diab 2019 - F yes Israel Arabic - 0 - - retinal disease short stature, developmental delay, congenital mental retardation, microcephaly, facial dysmorphism and retinitis pigmentosa 1 1 LOVD
00383871 MOL0760 IV:4 PubMed: Abu Diab 2019 - F yes Israel Arabic - 0 - - retinal disease short stature, developmental delay, congenital mental retardation, microcephaly, facial dysmorphism and retinitis pigmentosa 1 1 LOVD
00385161 52 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - 0 - - retinal disease HP:0000505 Visual Impairment;; HP:0000750 Delayed speech and language development; HP:0000322:Short philtrum; HP:0000448:Prominent nose; HP:0001270 motor delay; HP:0000252:Microcephaly; HP:0002421 poor head control; HP:0002019:Constipation; 2 1 LOVD
00387716 M120 PubMed: Hu 2019 family, 3 affected individuals, second cousin parents - yes Iran Persia - 0 - - ID syndromic intellectual disability, microcephaly 1 3 Johan den Dunnen
00387741 M256 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - 0 - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00387761 M339 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - 0 - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00387796 M8600571 PubMed: Hu 2019 family, 4 affected individuals, first cousin parents - yes - Arab - 0 - - ID syndromic intellectual disability, microcephaly 1 4 Johan den Dunnen
00387799 M8700007 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - 0 - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00388823 107 PubMed: Weisschuh 2020 Filing key number: 49, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - 0 - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389311 595 PubMed: Weisschuh 2020 Filing key number: 214, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - 0 - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389312 596 PubMed: Weisschuh 2020 Filing key number: 214, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389372 656 PubMed: Weisschuh 2020 Filing key number: 234, unclassified / mixed, no patient Ids, consecutive numbers given F - Germany - - 0 - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389373 657 PubMed: Weisschuh 2020 Filing key number: 234, unclassified / mixed, no patient Ids, consecutive numbers given F - Germany - - 0 - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389632 916 PubMed: Weisschuh 2020 Filing key number: 390, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
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