All individuals with variants in gene SLC38A8

76 entries on 1 page. Showing entries 1 - 76.
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00001640 FamP1 PubMed: Perez 2014 2-generation family, 3 affected sisters F no Israel Jewish;India - - - - FVH2 secondary nystagmus and low vision 1 3 Yonatan Perez
00004130 - PubMed: Perez 2014 50 controls - - Israel Jewish;India - - - - Healthy/Control - 1 50 Johan den Dunnen
00155551 - Sharon, submitted - M no Israel India;Jewish - - - - FVH2 - 1 2 Dror Sharon
00309423 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309424 - PubMed: Sharon 2019 5 IRD families - - Israel - - - - - retinal disease - 1 5 Global Variome, with Curator vacancy
00333460 3719 PubMed: Soens 2017 possible duplicate - - - - - - - - retinal disease see paper; ... 1 1 LOVD
00379746 IR_GH_0088 - - F - Korea, South (Republic) - - - - - retinal disease HP:0032037, HP:0000639, HP:0000007, HP:0007750 2 1 Jinu Han
00379801 IR_GH_0162 - - M - Korea, South (Republic) - - - - - retinal disease HP:0030515, HP:0001123, HP:0000639, HP:0007750, HP:0007894 3 1 Jinu Han
00399319 F9:II-1 PubMed: Kuht 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), iris transillumination defect (HP:0012805) and strabismus (HP:0000486) 2 1 Mohammed A.M Derar
00399328 F8:II-1 PubMed: Kuht 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), iris transillumination defect (HP:0012805) and strabismus (HP:0000486) 1 1 Mohammed A.M Derar
00399329 F6:II-2 PubMed: Kuht 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) and strabismus (HP:0000486) 2 1 Mohammed A.M Derar
00399330 F4:II-1 PubMed: Kuht 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and optic nerve misrouting (HP:0025551). 2 1 Mohammed A.M Derar
00399350 F2:II-1;Pat80 PubMed: Kuht 2020, PubMed: Moon 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and optic nerve misrouting (HP:0025551) 2 1 Mohammed A.M Derar
00399351 F1:II-1;Pat78 PubMed: Kuht 2020, PubMed: Moon 2021 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Korea - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) and strabismus (HP:0000486) 2 2 Mohammed A.M Derar
00399353 FamP2 PubMed: Perez 2014 2-generation family, affected brother/sister - no Israel Jewish;India - - - - FVH2 secondary nystagmus and low vision 1 2 Yonatan Perez
00399354 FamP3 PubMed: Perez 2014 2-generation family, affected father/2 sons/daughter - no Israel Jewish;India - - - - FVH2 secondary nystagmus and low vision 1 4 Yonatan Perez
00399355 F1 PubMed: Poulter 2013 4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - FVH2 - 1 5 Johan den Dunnen
00399356 F2 PubMed: Poulter 2013 5-generation family, 2 affected sisters unaffected heterozygous carrier parents/relatives F yes Afghanistan - - - - - FVH2 - 1 2 Johan den Dunnen
00399357 F3 PubMed: Poulter 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Netherlands - - - - - FVH2 see paper; ..., foveal hypoplasia, optic nerve misrouting, Kartagener syndrome 2 1 Johan den Dunnen
00399359 F5 PubMed: Poulter 2013 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - FVH2 - 1 1 Johan den Dunnen
00399360 F6 PubMed: Poulter 2013 5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M yes India - - - - - FVH2 - 1 3 Johan den Dunnen
00399361 F7 PubMed: Poulter 2013 2-generation family, 2 affected sisters F - - Europe-N - - - - FVH2 - 2 2 Johan den Dunnen
00399362 F1:II-2 PubMed: Kuht 2020 brother M - Korea - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) and strabismus (HP:0000486) 2 1 Mohammed A.M Derar
00399363 F3:II-1;Pat79 PubMed: Kuht 2020, PubMed: Moon 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - - - - - FVH2 foveal hypoplasia (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) 2 1 Johan den Dunnen
00399364 F7:II-3 PubMed: Kuht 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - FVH2 foveal hypoplasia (HP:0007750), nystagmus (HP:0000639) 1 1 Johan den Dunnen
00399365 F5:II-1 PubMed: Kuht 2020 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Korea - - - - - FVH2 foveal hypoplasia (HP:0007750), nystagmus (HP:0000639) 3 2 Johan den Dunnen
00399366 F5:II-2 PubMed: Kuht 2020 brother M no Korea - - - - - FVH2 foveal hypoplasia (HP:0007750), nystagmus (HP:0000639) 3 1 Johan den Dunnen
00399380 Proband 2 PubMed: Campbell 2019 no pedigree available for this proband F - United Kingdom (Great Britain) - - - - - FVH2 ypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), posterior embryotoxon (HP:0000627) and Hypopigmentation of the fundus (HP:0007894) 2 1 Mohammed A.M Derar
00399387 II:2 PubMed: Toral 2017 2 generation family, 3 offsprings, 2 affected/1 unaffected, unaffected heterozygous carrier parents F no (United States) Ashkenazi Jew - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), astigmatism (HP:0000483) and moderate hypermetropia (HP:0031729) 1 2 Mohammed A.M Derar
00399394 Fam5RP0057 PubMed: Weiner 2020 The only offspring in a 2 generation family, parents asymptomatic F no Israel Jewish-India - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663) and nystagmus (HP:0000639). 2 1 Mohammed A.M Derar
00399407 Fam4NY0048 PubMed: Weiner 2020 2 generation family with one affected offspring and one unaffected F no Israel Jewish-India - - - - FVH2 Hypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639), Hypopigmentation of the fundus (HP:0007894), Posterior embryotoxon (HP:0000627), Reduced visual acuity (HP:0007663) and Optic nerve misrouting (HP:0025551) 1 1 Mohammed A.M Derar
00399408 SLC38A8-P1 PubMed: Lasseaux 2018 no pedigree data is available ? - - white - - - - FVH2 Hypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639) and Iris transillumination defect (HP:0012805) 2 1 Mohammed A.M Derar
00399411 SLC38A8-P2 PubMed: Lasseaux 2018 no pedigree data available ? - - - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639), Hypermetropia (HP:0000540) and Astigmatism (HP:0000483) 2 1 Mohammed A.M Derar
00399468 SLC38A8-P3 PubMed: Lasseaux 2018 no pedigree data available ? - - white - - - - FVH2 ypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639),Hypermetropia (HP:0000540) and Astigmatism (HP:0000483) 2 1 Mohammed A.M Derar
00399470 SLC38A8-P4 PubMed: Lasseaux 2018 no pedigree data available ? - - white - - - - FVH2 Hypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639),Hypermetropia (HP:0000540), Astigmatism (HP:0000483), Reduced visual acuity (HP:0007663), Strabismus (HP:0000486) and Iris transillumination defect (HP:0012805) 2 1 Mohammed A.M Derar
00399472 F4 (II:I) PubMed: Poulter 2013 2 generation pedigree with one offspring affected and the other is asymptomatic. F yes Pakistan - - - - - FVH2 Hypoplasia of the fovea (HP:0007750) and Reduced visual acuity (HP:0007663) 1 1 Mohammed A.M Derar
00399514 1-1 PubMed: Schiff 2021 2 generation family with one affected and two unaffected offsprings M yes Bangladesh - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486) 1 1 Mohammed A.M Derar
00399515 2-2 PubMed: Schiff 2021 2 generation family with 2 affected offsprings and 3 unaffected. M yes India - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), posterior embryotoxon (HP:0000627) and strabismus (HP:0000486) 1 2 Mohammed A.M Derar
00399516 3-1 PubMed: Schiff 2021 no pedigree data available F - Pakistan - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) & strabismus (HP:0000486) 1 1 Mohammed A.M Derar
00399518 4-1 PubMed: Schiff 2021 2 generation family with 3 offsprings of whom one is affected F yes Sri Lanka - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), posterior embryotoxon (HP:0000627) and cataracts (HP:0000518) 1 1 Mohammed A.M Derar
00399535 5-1 PubMed: Schiff 2021 2 generation family with two affected offsprings F no United Kingdom (Great Britain) - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) and (HP:0012805) and strabismus (HP:0000486). 2 2 Mohammed A.M Derar
00399536 6-1 PubMed: Schiff 2021 2 generation family with 3 offsprings in total (from 2 wives). Only one child is affected. F no United Kingdom (Great Britain) spanish and british ancestry - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), Shallow anterior chamber (HP:0000594) and strabismus (HP:0000486) 2 1 Mohammed A.M Derar
00399537 Pat1 PubMed: Ehrenberg 2021 no pedigree data available F - Israel Jewish-Ashkenazi - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486). 1 1 Mohammed A.M Derar
00399538 Pat4 PubMed: Ehrenberg 2021 no pedigree data available F - Israel Jewish-India - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639),strabismus (HP:0000486) and 1 1 Mohammed A.M Derar
00399541 Pat9 PubMed: Ehrenberg 2021 no pedigree data available F - Israel Jewish-Ashkenazi - - - - FVH2 Hypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639), Reduced visual acuity (HP:0007663) and strabismus (HP:0000486). 2 1 Mohammed A.M Derar
00400055 Pat14 PubMed: Ehrenberg 2021 no pedigree data available however grandfather is also affected. M - Georgia Jewish-Ashkenazi - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486). 2 2 Mohammed A.M Derar
00400056 Fam1 PubMed: Weiner 2020 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier relatives F;M - Israel Jewish-Karait - - - - FVH2 see paper; ... 1 3 Johan den Dunnen
00400071 Fam3 PubMed: Weiner 2020 2-generation family, 2 affected brothers, unaffected parents M - Israel Jewish-India - - - - FVH2 see paper; ... 1 2 Johan den Dunnen
00400072 Fam2 PubMed: Weiner 2020 2-generation family, 1 affected, unaffected heterozygous carrier relatives M - Israel Jewish-Karait - - - - FVH2 see paper; ... 1 1 Johan den Dunnen
00400073 Pat8 PubMed: Ehrenberg 2021 no pedigree data available F - Israel French-Canadian;Puerto Rican - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and macrocephaly (HP:0000256) 2 1 Mohammed A.M Derar
00400074 Pat12 PubMed: Ehrenberg 2021 no pedigree data available however has an affected brother M - Algeria;Iran;Turkey Jewish - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), strabismus (HP:0000486) and nystagmus (HP:0000639) 1 2 Mohammed A.M Derar
00400085 Pat2 PubMed: Ehrenberg 2021 no pedigree data available M - Israel Jewish-Ashkenazi - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663) and nystagmus (HP:0000639). 2 1 Mohammed A.M Derar
00401173 Pat11 PubMed: Ehrenberg 2021 brother M - Algeria;Iran;Turkey Jewish - - - - FVH2 see paper; ... 1 1 Johan den Dunnen
00401175 Pat3 PubMed: Ehrenberg 2021 - F - Israel Jewish-India - - - - ? see paper; ... 1 1 Johan den Dunnen
00401176 Pat5 PubMed: Ehrenberg 2021 - F - Israel Jewish-Ashkenazi - - - - ? see paper; ... 1 1 Johan den Dunnen
00401177 FamPat6 PubMed: Ehrenberg 2021 family, 2 affected sibs F - Israel Jewish-Ashkenazi - - - - ? see paper; ... 1 2 Johan den Dunnen
00401178 FamPat7 PubMed: Ehrenberg 2021 sib M - Israel Jewish-Ashkenazi - - - - ? see paper; ... 1 1 Johan den Dunnen
00401179 Pat10 PubMed: Ehrenberg 2021 - F - Israel Jewish-Ashkenazi - - - - ? see paper; ... 1 1 Johan den Dunnen
00401180 Pat13 PubMed: Ehrenberg 2021 grandfather M - Israel Jewish-Ashkenazi - - - - ? see paper; ... 1 1 Johan den Dunnen
00401649 III-804 PubMed: Kruijt 2022 no pedigree data is available however the proband has an affected sibling ? ? Netherlands - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and optic nerve misrouting (HP:0025551) 2 2 Mohammed A.M Derar
00401650 V-808 PubMed: Kruijt 2022 No pedigree data is available ? - Netherlands - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) 1 1 Mohammed A.M Derar
00401651 VIII-812 PubMed: Kruijt 2022 no pedigree data available ? - - Swedish, Italian, Irish and English ancestry - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663) and nystagmus (HP:0000639), 1 1 Mohammed A.M Derar
00402309 Pat 3 PubMed: Ehrenberg 2021 No pedigree data available F - Israel Indian jew - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486). 1 1 Mohammed A.M Derar
00402310 Pat5 PubMed: Ehrenberg 2021 No pedigree data avialble. F - Israel Ashkenazi jew - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486). 1 1 Mohammed A.M Derar
00402312 Pat6 PubMed: Ehrenberg 2021 No pedigree data available however the proband has an affected sibling F - Israel Ashkenazi jew - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486). 1 2 Mohammed A.M Derar
00402313 Pat10 PubMed: Ehrenberg 2021 No pedigree data available F - Israel Ashkenazi jew - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486). 1 1 Mohammed A.M Derar
00402315 FAM3NY0049 PubMed: Weiner 2020 2 generation family with 2 affected offsprings M no Israel Indian jew - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663) and nystagmus (HP:0000639) 1 2 Mohammed A.M Derar
00402317 FAM1NY0033 PubMed: Weiner 2020 2 generation family with 4 offsprings of whom 2 are affected. F no Israel Karait Jewish - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663) and nystagmus (HP:0000639) 1 2 Mohammed A.M Derar
00402318 FAM2NY0036 PubMed: Weiner 2020 2 generation family with one affected and four unaffected offsprings M no Israel Karait Jewish - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and posterior embryotoxon (HP:0000627) 1 1 Mohammed A.M Derar
00402341 7-1 PubMed: Schiff 2021 no pedigree data available F - - Ashkenazi jew - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), iris transillumination defect (HP:0012805) and strabismus (HP:0000486) 1 1 Mohammed A.M Derar
00402350 F7:II-3 PubMed: Kuht 2020 2 generation family with 3 offsprings of whom 2 are unaffected and one is affected F yes Turkey - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) and (HP:0012805) and strabismus (HP:0000486). 1 1 Mohammed A.M Derar
00405975 JU0210 PubMed: Hayashi 2021 2 family pedigree with 3 offsprings of whom 2 are asymptomatic and one is affected M yes Japan - - - - - FVH2 Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), Posterior embryotoxon (HP:0000627) & goniodysgenesis. 1 1 Mohammed A.M Derar
00434221 Fam56PatI PubMed: Jackson 2020 - F - United Kingdom (Great Britain) white - - - - ? ocular albinism; nystagmus; hypoplasia of the fovea 2 1 Johan den Dunnen
00434222 Fam58PatI PubMed: Jackson 2020 - M - India Asia - - - - ? ocular albinism; nystagmus; hypoplasia of the fovea; optic nerve misrouting 1 1 Johan den Dunnen
00434258 Fam26350 PubMed: Jackson 2020 - - - Pakistan Asia - - - - ? - 1 1 Johan den Dunnen
00434273 Fam26364 PubMed: Jackson 2020 - - - - Asia - - - - ? - 1 1 Johan den Dunnen
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