All individuals with variants in gene RAB3GAP1

84 entries on 1 page. Showing entries 1 - 84.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00056408 - PubMed: Rump 2016 - F - - - - - - - WARBM1 Microcephaly (HP:0000252) 1 1 Birgit Sikkema-Raddatz
00080941 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - WARBM1 Warburg micro syndrome 1 (OMIM:600118) 1 1 Daniel Trujillano
00081093 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - WARBM1 Warburg Micro syndrome 1 (OMIM:600118) 1 1 Daniel Trujillano
00292247 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 89 Mohammed Faruq
00307139 RABopathies 1 - - F yes Iran Lur - - - - microcephaly HP:0000519 HP:0007970 HP:0009062 HP:0001257 HP:0100022 HP:0001273 HP:0001344 HP:0006808 HP:0010864 HP:0002063 HP:0001257 HP:0003868 HP:0003928 HP:0002944 HP:0000175 HP:0000028 HP:0000998 HP:0003868 HP:0000369 HP:0003928 1 1 Ehsan Razmara
00332118 F46‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - MCOP - 1 1 LOVD
00332119 F47‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - MCOP - 1 1 LOVD
00332120 F48‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - - - - MCOP - 1 1 LOVD
00362830 K1 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362831 K2 PubMed: Handley 2013 - - - Pakistan - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362832 K3 PubMed: Handley 2013 - - - Pakistan - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362833 K4 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362834 K5 PubMed: Handley 2013 - - - Morocco - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362835 K6 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362836 K7 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362837 K8 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362838 K9 PubMed: Handley 2013 - - - Pakistan - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362839 K10 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362840 K11 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362841 K12 PubMed: Handley 2013 - - - India - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362842 K13 PubMed: Handley 2013 - - - Nigeria - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362843 K14 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362844 K15 PubMed: Handley 2013 - - - India - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362845 K16 PubMed: Handley 2013 - - - Saudi Arabia - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362846 K17 PubMed: Handley 2013 - - - Algeria - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362847 K18 PubMed: Handley 2013 - - - Germany - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362848 K19 PubMed: Handley 2013 - - - India - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362849 K20 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362850 K21 PubMed: Handley 2013 - - - Saudi Arabia - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362851 K22 PubMed: Handley 2013 - - - United Kingdom (Great Britain) white - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362852 K23 PubMed: Handley 2013 - - - Germany - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362853 K24 PubMed: Handley 2013 - - - Israel - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362854 K25 PubMed: Handley 2013 - - - Pakistan - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362855 K26 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362856 K27 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362857 K28 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362858 K29 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362859 K30 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362860 K31 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362861 K32 PubMed: Handley 2013 - - - United Kingdom (Great Britain) white - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362862 K33 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362863 K34 PubMed: Handley 2013 - - - Canada - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362864 K35 PubMed: Handley 2013 - - - Spain - - - - - WARBM see paper; ... 2 1 Johan den Dunnen
00362865 K36 PubMed: Handley 2013 - - - Germany - - - - - WARBM see paper; ... 2 1 Johan den Dunnen
00362866 K37 PubMed: Handley 2013 - - - United Kingdom (Great Britain) white - - - - WARBM see paper; ... 2 1 Johan den Dunnen
00362867 K38 PubMed: Handley 2013 - - - Czech Republic - - - - - WARBM see paper; ... 2 1 Johan den Dunnen
00362868 K39 PubMed: Handley 2013 - - - United States white - - - - WARBM see paper; ... 2 1 Johan den Dunnen
00362869 K40 PubMed: Handley 2013 - - - - white;Europe - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362870 K41 PubMed: Handley 2013 - - - France - - - - - WARBM see paper; ... 2 1 Johan den Dunnen
00362871 K42 PubMed: Handley 2013 - - - Saudi Arabia;Turkey - - - - - WARBM see paper; ... 2 1 Johan den Dunnen
00363166 patient PubMed: Abdel-Salam 2007 - - - Egypt - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00363167 patient PubMed: Abdel-Salam 2007 - - yes Egypt - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00363168 FamK1 PubMed: Aligianis 2005 - M yes Pakistan - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00363169 FamK2 PubMed: Aligianis 2005 - F yes Pakistan - - - - - WARBM intra-uterine growth retardation; postnatal growth retardation; birth OFC 2nd centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; CT brain normal; microcornea; microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; blind or light perception only; deep set eyes; brachycephaly; beaked nose/prominent root nose; no hirsuitism; low frontal hairline; large anteverted ears; no genital abnormalities 1 1 Johan den Dunnen
00363170 FamK3 PubMed: Aligianis 2005 - F yes Pakistan - - - - - WARBM intra-uterine growth retardation; no postnatal growth retardation; birth OFC 25th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; no feeding difficulties; CT brain bilateral frontal pachygyria; microphthalmia; congenital dense central cataracts; small atonic pupils; blind or light perception only; ptosis; deep set eyes; brachycephaly; beaked nose/prominent root nose; hirsuitism; low frontal hairline; large anteverted ears; no genital abnormalities 1 1 Johan den Dunnen
00363171 FamK4 PubMed: Aligianis 2005 - F yes Morocco - - - - - WARBM intra-uterine growth retardation; no postnatal growth retardation; birth OFC 2nd-9th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; no feeding difficulties; MRI brain thin corpus and splenium of corpus callosum, bilateral frontal polymicrogyria; no microcornea; right microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; blind or light perception only; no ptosis; deep set eyes; brachycephaly; beaked nose/prominent root nose; no hirsuitism; low frontal hairline; no large anteverted ears; hypogenitalism; umbilical hernia 1 1 Johan den Dunnen
00363172 FamK5 PubMed: Aligianis 2005 - - yes Pakistan - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00363173 FamK9 PubMed: Aligianis 2005 - - yes Pakistan - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00363174 FamK10 PubMed: Aligianis 2005 - - yes Pakistan - - - - - WARBM intra-uterine growth retardation; postnatal growth retardation; birth OFC 2nd-9th centile; postnatal microcephaly; no seizures; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; MRI brain thin corpus and splenium of corpus callosum, decreased myelination of whlte matter; microcornea; microphthalmia; congenital dense central cataracts; small pupils but react to light; optic nerve hypoplasia/atrophy; blind or light perception only; deep set eyes; brachycephaly; beaked nose/prominent root nose; hirsuitism; low frontal hairline; large anteverted ears; micropenis, hypospadius; growth hormone deficiency 1 1 Johan den Dunnen
00363175 FamK11 PubMed: Aligianis 2005 - - yes Lebanon - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00363176 FamK12 PubMed: Aligianis 2005 - - yes Turkey - - - - - WARBM no intra-uterine growth retardation; postnatal growth retardation; birth OFC 50-75th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; MRI brain delayed myelination, cerebral atrophy particularly frontal, hypoplasia corpus callosum, pachygyria; microcornea; microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; L side ptosis; deep set eyes; no brachycephaly; beaked nose/prominent root nose; no hirsuitism; low frontal hairline; large anteverted ears; no genital abnormalities 1 1 Johan den Dunnen
00363177 FamK13 PubMed: Aligianis 2005 - M no South Africa - - - - - WARBM no intra-uterine growth retardation; no postnatal growth retardation; birth OFC 25th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; CT brain abnormal corpus callosum; MRI brain hypogenesis corpus callosum, agenesis splenium, decreased myelination whilte matter; microcornea; microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; blind or light perception only; ptosis; deep set eyes; brachycephaly; no beaked nose/no prominent root nose; no hirsuitism; no low frontal hairline; large anteverted ears; micropenis, bifid scrotum, cryptorchidism; few renal cysts on ultrasound, DMSA normal 1 1 Johan den Dunnen
00363178 FamK14 PubMed: Aligianis 2005 - M yes Pakistan - - - - - WARBM no intra-uterine growth retardation; no postnatal growth retardation; birth OFC 50th centile; postnatal microcephaly; no seizures; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; no feeding difficulties; CT brain cerebral atrophy; microcornea; microphthalmia; congenital dense central cataracts; blind or light perception only; beaked nose/prominent root nose; large anteverted ears; micropenis, cryptorchidism 1 1 Johan den Dunnen
00363179 FamK15 PubMed: Aligianis 2005 - - no Mexico - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00363180 Pat1 PubMed: Morris-Rosendahl 2010 - F yes Turkey - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; bilateral congenital cataracts; persistently constricted pupils; bitemporal hollowing, small mouth, retrognathia, high arched palate, low set ears; hypertrichosis, particularly on back; genital hypoplasia: hypoplastic labia maiora; severe developmental delay; severe axial hypotonia and peripheral hypertonia, marked rigidity of the hips and knees; osteopenic aspect skeleton, bilateral coxa valga; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, cerebellar vermis hypoplasia, wide sylvian fissures, delayed myelinisation; no seizures; failure to thrive, feeding difficulties (all liquids are thickened and food has to be blended), widely-spaced nipples, 1 1 Johan den Dunnen
00363181 Pat2 PubMed: Morris-Rosendahl 2010 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M yes Turkey - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; bilateral congenital cataracts; persistently constricted pupils; sees only light and dark, despite cataract removal, lenses missing, severe strabismus and nystagmus; wide nasal bridge, large malformed, low set ears; hypertrichosis; micropenis, cryptorchidism; severe mental retardation; muscle hypotonia, spastic quadriplegia, contractures, particularly affecting the knee joint, ; overlapping toes; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, defective myelinisation; no seizures; can only take in liquids and liquidized foods. cardiac ventricle-septal defect, incomplete 4-finger fold 1 2 Johan den Dunnen
00363182 Pat3 PubMed: Morris-Rosendahl 2010 sib M yes Turkey - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts, operatively removed at age 5m; glaucoma, bilateral optic atrophy; hypotelorism, low insertion of columella and/or short philtrum, thin lips with tented mouth; no hypertrichosis; hypogonadism, micropenis; severe mental retardation; severe muscle hypotonia, quadriplegic; small hands and feet, brachydactyly of feet; MRI brain bilateral frontal polymicrogyria, copus callosum hypoplasia, cerebellar vermis hypoplasia; no seizures; accessory nipple on right chest, single palmar crease 1 1 Johan den Dunnen
00363183 Pat4 PubMed: Morris-Rosendahl 2010 - - yes Palestine - - - - - WARBM prenatal diagnosis; bilateral cataracts; flat forehead, prominent nasal bridge 1 1 Johan den Dunnen
00363184 Pat5 PubMed: Morris-Rosendahl 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Denmark - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; white membrane, no lens; persistently constricted pupils; optic nerve hypoplasia, retinal changes; mild hypertelorism, deep-set eyes; no hypertrichosis; severe mental retardation; initially hypotonic, 15m-global developmental delay, unable to sit, poor head control, few voluntary movements; hyper-extended first toe both feet; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, delayed myelinisation; 2-3m-seizures treated with oxcarbazepin, now seizure-free ; initial failure to thrive 1 1 Johan den Dunnen
00363185 Pat6 PubMed: Morris-Rosendahl 2010 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M - Guatemala - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts; persistently constricted pupils; wide nasal bridge ; hypertrichosis only on forehead; micropenis, cryptoorchidism; profound mental retardation; unable to sit unsupported, reacts to sound; hallux valgus; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, cerebellar vermis hypoplasia, megacisterna; no seizures; failure to thrive, oral/pharyngeal dysphagia (peg feeding), umbilical hernia 1 2 Johan den Dunnen
00363186 Pat7 PubMed: Morris-Rosendahl 2010 sib F - Guatemala - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts with synechiae to the capsule; persistently constricted pupils; no normal lenses; wide nasal bridge, deep philtrum, anteverted nares ; no hypertrichosis; no hypogonadism; profound developmental delay; 10m-no roll, head lag on pull to sit, does not hold objects, coos, reacts to sound; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis; no seizures 1 1 Johan den Dunnen
00363187 patient PubMed: Yuksel 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00374454 S-3829 PubMed: Ganapathy 2019 - - - India - - - - - ? Microcornea and thin corpus callosum 1 1 Johan den Dunnen
00374822 R-0556 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00385524 17014480 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00387821 M8700147 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly 1 3 Johan den Dunnen
00415251 6 PubMed: Alfares 2018 - M - - - - - - - retinal disease OMIM: 600118; mental retardation 1 1 LOVD
00416844 1 PubMed: Rump 2016 - F - - - - - - - WARBM brain magnetic resonance imaging: thin corpus callosum, mild enlarged ventricles, hypoplasia of vermis and cerebellum; additional clinical featuresbilateral congenital cataracts, microphthalmia, pale optic discs, hypogenitalism, axial hypotonia, hip dislocation, joint contractures, severe intellectual disability 1 1 LOVD
00444971 13DG1449 PubMed: Patel 2017 simplex case - - - - - - - - CTRCT pediatric cataract as part of micro warburg syndrome; syndromic 1 1 Johan den Dunnen
00445052 WARBM1309 PubMed: Kessel 2021 patient - - Denmark - - - - - CTRCT bilateral cataract, Warburg micro syndrome 2 1 Johan den Dunnen
00445053 WARBM1511 PubMed: Kessel 2021 family, 2 affected - - Denmark - - - - - CTRCT bilateral cataract, Warburg micro syndrome 1 2 Johan den Dunnen
00445054 WARBM1552 PubMed: Kessel 2021 patient - - Denmark - - - - - CTRCT bilateral cataract, Warburg micro syndrome 1 1 Johan den Dunnen
00453463 - - - M - - (not applicable) - - - - - ? HP:0000252, HP:0000135, HP:0000519, HP:0002187, HP:0008897 2 1 Marketa Wayhelova
00453485 - - - F - - (not applicable) - - - - - ID HP:0001249, HP:0000271, HP:0001250 2 1 Marketa Wayhelova
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.