All individuals with variants in gene BBS2

268 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000025 - PubMed: Bell 2011 - - - - - - - - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00001819 - - - - - (United States) - - - - - RP - 1 1 Feng Wang
00016611 - - - - - - - - - - - - - 1 1 Christopher Watson
00050437 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? obesity, global developmental delay, enlarged kidneys, renal cysts, abnormal electroretinogram 2 2 Johan den Dunnen
00095923 61014 PubMed: Li 2017 - M yes Pakistan Pakistani - - - - RPar Progressive RP 1 1 James Hejtmancik
00104994 A18.1 PubMed: de Castro-Miró 2016 - M yes Spain - - - - - retinal disease - 1 1 Marta de Castro-Miró
00155385 - Sharon, submitted - F no Israel Jewish-Ashkenazi - - - - retinal disease - 1 1 Dror Sharon
00155386 - PubMed: Shevach 2015, PubMed: Kimchi 2018, PubMed: Sharon 2019 - M no Israel Jewish-Ashkenazi - - - - retinal disease - 2 3 Dror Sharon
00155387 FamMOL0970 PubMed: Shevach 2015, PubMed: Kimchi 2018, PubMed: Sharon 2019 2-generation family, 2 affected brothers, unaffected parents M no Israel Jewish-Ashkenazi - - - - retinal disease - 1 2 Dror Sharon
00155388 FamMOL0369 PubMed: Shevach 2015 3-generation family, 3 affected (F, 2M), unaffected parents M no Israel Morocco;Jewish - - - - retinal disease - 2 3 Dror Sharon
00165196 - - - - - - - - - - - BBS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00233354 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 7 Yoshito Koyanagi
00233355 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233356 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233357 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233358 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 3 Yoshito Koyanagi
00233359 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233360 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233361 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233362 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233363 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 19 Yoshito Koyanagi
00233364 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233365 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233366 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00233367 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233368 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 600 Yoshito Koyanagi
00233369 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233370 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233371 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233788 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233789 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 207 Yoshito Koyanagi
00233790 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1203 Yoshito Koyanagi
00269968 Fam4P5 PubMed: Karali 2019, Journal: Karali 2019 - - - Italy - - - - - retinal disease pericentral RP, incidental diagnosis, pericentral field loss 1 1 Sandro Banfi
00276084 FamGB PubMed: Shevach 2015 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M yes United Kingdom (Great Britain) Jewish-Ashkenazi - - - - retinal disease see paper; ... 1 2 Johan den Dunnen
00276085 FamMOL0714 PubMed: Shevach 2015 2-generation family, 1 affected, unaffected parents M - Israel Jewish-Ashkenazi - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00276086 FamRD158 PubMed: Shevach 2015 2-generation family, 1 affected, unaffected parents F - Israel Jewish-Ashkenazi - - - - retinal disease see paper; ... 2 1 Johan den Dunnen
00291493 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00299641 FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - retinal disease see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90 1 1 Johan den Dunnen
00308478 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308479 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308480 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308600 - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308958 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308959 - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - retinal disease - 1 3 Global Variome, with Curator vacancy
00308960 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308962 - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - retinal disease - 1 2 Global Variome, with Curator vacancy
00308963 - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - retinal disease - 1 3 Global Variome, with Curator vacancy
00308964 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00325432 2007 PubMed: Zenteno 2020 family - - Mexico - - - - - retinal disease syndromic retinal dystrophy 1 1 Johan den Dunnen
00331733 RP-2167 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - retinal disease cone-rod dystrophy, obesity, polydactyly, brachydactyly, psychomotor, learning delay, behaviour disorder 2 1 LOVD
00334084 613 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - retinal disease clinical category IB2 2 2 LOVD
00334085 614 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - retinal disease clinical category IB2 1 2 LOVD
00334086 615 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IB2 2 1 LOVD
00334087 616 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IB2 2 1 LOVD
00335259 Pat51 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - retinal disease see paper; ... 2 1 Nereida Bravo Gil
00358803 KK047-05 PubMed: Lindstrand 2016 - M yes United States - - - - - BBS see paper; ... 1 1 LOVD
00358807 AR800-03 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... 1 1 LOVD
00358809 RC2-0311 PubMed: Lindstrand 2016 - M yes United States - - - - - BBS see paper; ... 1 1 LOVD
00358975 Case30806 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 2 1 LOVD
00359383 449 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - retinal disease see paper; ... 2 1 LOVD
00363432 Pat8 PubMed: Ece Solmaz 2015 patient - - Turkey - - - - - retinal disease see paper; ... 1 1 LOVD
00363434 Pat10 PubMed: Ece Solmaz 2015 patient - - Turkey - - - - - retinal disease see paper; ... 1 1 LOVD
00363624 10DG1111 PubMed: Patel 2016 - - - Saudi Arabia - - - - - retinal disease non-syndromic 1 1 LOVD
00363710 12DG1870 PubMed: Patel 2016 - - - Saudi Arabia - - - - - retinal disease syndromic 1 1 LOVD
00363731 13DG0522 PubMed: Patel 2016 - - - Saudi Arabia - - - - - retinal disease syndromic 1 1 LOVD
00372518 RP237 PubMed: Xu 2015 2-generation family, 1 affected, unaffected carrier parents F - China - - - - - retinal disease see paper; ... 2 1 Johan den Dunnen
00372519 RP240 PubMed: Xu 2015 2-generation family, 1 affected, unaffected carrier parents M - China - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00373490 RH1-PatV1 PubMed: Liu 2015 family, 2 affected F - China - - - - - retinal disease see paper; ... 1 2 LOVD
00373491 RH1-PatV2 PubMed: Liu 2015 - M - China - - - - - retinal disease see paper; ... 1 1 LOVD
00373877 OGI-297-650 PubMed: Consugar 2015 - - - United States - - - - - retinal disease see paper; ... 2 1 LOVD
00373886 OGI-420-894 PubMed: Consugar 2015 - - - United States - - - - - retinal disease see paper; ... 2 1 LOVD
00375442 MA11 PubMed: Watson 2014 family - - United Kingdom (Great Britain) - - - - - retinal disease see paper; ... 1 1 LOVD
00379354 - PubMed: Harville-2010 - - yes Turkey - - - - - retinal disease Retinitis pigmentosa, polydactyly, obesity, renal anomalies 1 1 LOVD
00379355 - PubMed: Harville-2010 - - yes Pakistan - - - - - retinal disease Retinitis pigmentosa, polydactyly, obesity 1 1 LOVD
00380352 - PubMed: M'hamdi_2014 - M yes Tunisia Tunisian - - - - retinal disease Anemia, arterial hypertension. Retinitis pigmentaria 1 1 LOVD
00380354 - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - - - - retinal disease retinitis pigmentaria 1 1 LOVD
00381726 - PubMed: Wang-2014 - - no - - - - - - retinal disease - 1 1 LOVD
00382489 351 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00382490 352 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00382491 353 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00382492 354 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00382493 355 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00382881 - PubMed: Katsanis-2001 - - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD) 2 1 LOVD
00382882 - PubMed: Katsanis-2001 - - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev) and renal malformations (Ren) 1 1 LOVD
00382883 - PubMed: Katsanis-2001 - - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD) and renal malformations (Ren) 1 1 LOVD
00382884 - PubMed: Katsanis-2001 homozygous by descent BBS1 - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev) and renal malformations (Ren) 1 1 LOVD
00382885 - PubMed: Katsanis-2001 - - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev) and renal malformations (Ren) 1 1 LOVD
00382886 - PubMed: Katsanis-2001 homozygous by descent BBS4 - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations 1 1 LOVD
00382887 - PubMed: Katsanis-2001 BBS2-linkage - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations 1 1 LOVD
00382888 - PubMed: Katsanis-2001 one BBS2 mutation but excluded genetically from the BBS2 locus; Unknown 2nd allele - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations 1 1 LOVD
00382889 - PubMed: Katsanis-2001 one BBS2 mutation but excluded genetically from the BBS2 locus; Unknown 2nd allele - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations 1 1 LOVD
00382890 - PubMed: Katsanis-2001 one BBS2 mutation but excluded genetically from the BBS2 locus; 2nd and 3rd allele BBS1 - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), gonadal and renal malformations 1 1 LOVD
00382891 - PubMed: Katsanis-2001 one BBS2 mutation but excluded genetically from the BBS2 locus; 2nd and 3rd allele BBS1 - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev) and renal malformations (Ren) 1 1 LOVD
00382892 - PubMed: Katsanis-2001 one BBS2 mutation but excluded genetically from the BBS2 locus; 2nd and 3rd allele BBS1 - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD) 1 1 LOVD
00382893 - PubMed: Katsanis-2001 one BBS2 mutation but excluded genetically from the BBS2 locus; 2nd and 3rd allele BBS3 - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev) and gonadal malformations 1 1 LOVD
00382894 - PubMed: Katsanis-2001 - - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations 1 1 LOVD
00382895 - PubMed: Katsanis-2001 - - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations 2 1 LOVD
00382896 - PubMed: Katsanis-2001 - - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations 1 1 LOVD
00382897 - PubMed: Katsanis-2001 two BBS2 mutations found in unaffected individuals; 3rd allele unmapped - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD) and gonadal malformations 2 1 LOVD
00382898 - PubMed: Katsanis-2001 two BBS2 mutations found in unaffected individuals - - - - - - - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD) and renal malformations (Ren) 2 1 LOVD
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.