All individuals with variants in gene RAB3GAP2

26 entries on 1 page. Showing entries 1 - 26.
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00000019 - PubMed: Almomani 2011 - - - - - - - - - autism, BMD/DMD, TSC - 1 1 Global Variome, with Curator vacancy
00050687 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? downslanted palpebral fissures, congenital cataract, specific learning disability 2 1 Johan den Dunnen
00095157 - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - ? see paper; … 1 2 Johan den Dunnen
00289724 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 172 Mohammed Faruq
00304183 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00326972 MRK37 PubMed: Chen 2021, Journal: Chen 2021 - F - China Han - - - - MRKHS see paper; ... 1 1 Johan den Dunnen
00332121 F49‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - MCOP - 1 1 LOVD
00362872 K43 PubMed: Handley 2013 - - - Mexico - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362873 K44 PubMed: Handley 2013 - - - Gambia - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362874 K45 PubMed: Handley 2013 - - - Pakistan - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362875 K46 PubMed: Handley 2013 - - - Israel Arab, Muslim - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362876 K47 PubMed: Handley 2013 - - - Tunisia - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362877 K48 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362878 K49 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362879 K50 PubMed: Handley 2013 - - - Saudi Arabia - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00362880 K51 PubMed: Handley 2013 - - - Netherlands - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
00363164 family PubMed: Aligianis 2006 4-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parent/relatives F;M yes Pakistan - - - - - MARTS1 see paper; ..., no intrauterine growth retardation, postnatal growth retardation; birth OF 34cm; postnatal microcephaly; no seizures; truncal hypotonia; limb spasticity and spastic cerebral palsy; 3y-speech; 3y-walking; congenital cataracts?, microphthalmia; brachycephaly; no distinct dysmorphic features, no maxillary retrusion or pouting lips; hirsutism; female no genital abnormalities/male micropenis, cryptorchidism; large ears; CT brain normal 1 3 Johan den Dunnen
00363165 Pat1 PubMed: Borck 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - WARBM see paper; ..., normal length, normal weight at birth; postnatal microcephaly, postnatal growth retardation; hypotonia; 21m-no limb spasticity; severe developmental delay, severe mental retardation; 21m-no speech; 21m-not walking; congenital cataracts; microphthalmia; no optic atrophy; ERG normal, absent visually evoked potentials; large ears; 21m-no kyphoscoliosis; hypoplastic corpus callosum; abnormal gyration; 21m- no seizures 1 1 Johan den Dunnen
00374455 S-2690 PubMed: Ganapathy 2019 - - - India - - - - - ? Bilateral congenital cataract, stiffness on both legs and toe walking 1 1 Johan den Dunnen
00374823 R-0527 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00385522 17013599 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00390427 G001037 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00427091 Fam1673PatIII1 PubMed: Ghosh 2020 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - microlissencephaly birth full term, weight 2990g, OFC -2SD; weight 20kg, height 125cm, OFC -3SD; no gross motor delay, no fine motor delay, no speech delay, normal social development; neonatal seizures, generalized tonic-clonic seizures (2/w), refractory, EEG multifocal spike/wave; lissencephaly spectrum; cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; no cerebellar atrophy; no brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism 1 1 Johan den Dunnen
00435409 264057 - - F likely ? (unknown) - - - - - MARTS1 High palate, Retrognathia, Hearing impairment, Cataract, Developmental cataract, Hypotelorism, Synophrys, Single transverse palmar crease, Dystonia 1 1 Andreas Laner
00445055 WARBM1574 PubMed: Kessel 2021 patient - - Denmark - - - - - CTRCT bilateral cataract, Warburg micro syndrome 1 1 Johan den Dunnen
00467591 - - - - - China - - - - - MARTS1 - 1 1 Xuemei Tan
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