All individuals with variants in gene ARL3

22 entries on 1 page. Showing entries 1 - 22.
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00179519 JBTS_Fam1_II_5 PubMed: Alkanderi 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Saudi Arabia - >05y - - - JBTS developmental delay, ataxia ptosis, rod cone dystrophy, night blindness, bilateral visual pathway involvement; left multicystic dysplastic kidney, right grade I hydronephrosis Single palmar crease, pectus carinatum, normal Auditory Brainstem Response 1 1 John Sayer
00179520 JBTS_Fam2_II_1 PubMed: Alkanderi 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F - Pakistan - >21y - - - JBTS Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss Recurrent UTI Renal scarring bilaterally Thermoregulation problems; episode of transverse myelitis 1 3 John Sayer
00179521 JBTS_Fam2_II_4 PubMed: Alkanderi 2018 sister F yes Pakistan - >12y - - - JBTS Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss Normal renal USS Thermoregulation problems; sleep apnoea 1 1 John Sayer
00179522 JBTS_Fam2_II_5 PubMed: Alkanderi 2018 sister F yes Pakistan - >09y - - - JBTS Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss, oculomotor apraxia Recurrent UTI Unequal kidney size 1 1 John Sayer
00233183 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 6 Yoshito Koyanagi
00233184 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 3 Yoshito Koyanagi
00233185 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00233186 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00289071 FamPatII1 PubMed: Strom 2016 3-generation family, 3 affected (2F, M), mother F - United States - - - - - retinal disease difficulty reading, mild decreased visual acuity, bilateral visual field concentric constriction; 41y-cataract surgery; visual acuity right eye 20/60, left eye 20/80; intraocular pressures right 12, left 10; visual fields “central islands” bilaterally, retina showed classic pattern of mid-peripheral pattern of pigmentation with attenuated vessels; optical coherence tomography showed no edema; no other relevant medical problems 1 3 Johan den Dunnen
00289072 FamPatIII1 PubMed: Strom 2016 son M - United States - - - - - retinal disease retinitis pigmentosa, related cystoid macular edema; bothered by light flashes severe enough to be almost disabling; floaters, progressive loss peripheral vision; had different surgical procedures as Lasik OU (2003), cataract removal OD (2008), Yag, 12y and 14y-strabismus for exotropia 15–20del; acuity right 20/20, left 20/25+2; intraocular pressures right 13, left 14; both visual fields constricted; posterior subcapsular cataract left eye only, intraocular lens right eye only; no other relevant medical problems 1 1 Johan den Dunnen
00289073 FamPatIII2 PubMed: Strom 2016 daugther F - United States - - - - - retinal disease late onset nyctalopia, decreased vision, difficulty reading and driving, flashes and floaters for several years, progressive loss of peripheral vision; medical history of difficulties with gait, headaches, difficulties with balance, increased urinary frequency, severe ankle swelling (partially responsive to Lasix, possibly familial lymphedema); visual acuity right 20/80-1, left 20/60-2; intraocular pressures right 13, left 14; bilateral visual field constriction; posterior subcapsular cataract left eye; intraocular lens right eye only; fundus vitreous floater right eye; bilateral attenuation retinal vessels, bone-spicules periphery; optical coherence tomography cystoid macular edema 1 1 Johan den Dunnen
00326994 Hongyang-ARL3 - - M - China - - - - - RP19 rod-cone dystrophy 2 1 Leming Fu
00375519 - - four-generation family with five affected one unaffected members - - - - - - - - retinal degeneration Progressive retinal degeneration with maculopathy 1 1 Rinki Ratnapriya
00392343 191484 PubMed: Xiao-2021 - M - China - - - - - retinal disease best corrected visual acuity right/left eye: 0.05/0.07, electroretinograhy responses: extinguished 1 1 LOVD
00404064 FamPatII1 PubMed: Holtan 2019 2-generation family, affected, affected father/son M - Norway - - - - - RP see paper; ... 1 2 Johan den Dunnen
00404096 FamPatIII1 PubMed: Holtan 2019 son M - Norway - - - - - RP see paper; ..., 1 1 Johan den Dunnen
00404097 family PubMed: Ratnapriya 2021 5-generation family, 7 affected (4F, 3M) F;M - United States - - - - - RP see paper; ... 1 7 Johan den Dunnen
00404104 FamLUSG03 PubMed: Sheikh 2019 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - retinal disease see paper; ..., bilateral vision impairment, no cornea opacity, no color vision, no night blindness 1 1 Johan den Dunnen
00404105 FamLUSG04 PubMed: Sheikh 2019 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - retinal disease see paper; ..., bilateral vision impairment, no cornea opacity, no color vision, no night blindness 1 1 Johan den Dunnen
00404106 family PubMed: Fu 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes China - - - - - retinal disease see paper; ..., typical cone-rod dystrophy, decrease of vision, nyctalopia 2 1 Johan den Dunnen
00447530 CD-625 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447545 CRD-850 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
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