All individuals with variants in gene OCA2

22 entries on 1 page. Showing entries 1 - 22.
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     
00072301 - - - M yes France African - 0 - - ? axial hypotonia (HP:0008936), peripheral hypertonia (HP:0001276), ductus arteriosus (HP:0001643), pulmonary hypertension (HP:0002092), albinism (HP:0001022) 1 1 Morice-Picard
00074519 18172690 blue eyes PubMed: Eiberg 2008, Journal: Eiberg 2008 - - - Denmark - - - - - ? Blue irides (HP:0000635) 1 150 Pieter Klap
00074520 18172690 brown eyes PubMed: Eiberg 2008, Journal: Eiberg 2008 - - - Denmark - - - - - Healthy/Control No blue irides (-HP:0000635) 1 46 Pieter Klap
00074549 25455140 OCA_22 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >16y 0 - - OCA-1A Mild generalized hypopigmentation (HP:0007513) 1 1 Pieter Klap
00074553 25455140 OCA_07 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >52y 0 - - OCA-1A Mild generalized hypopigmentation (HP:0007513) 1 1 Pieter Klap
00074554 25455140 OCA_14 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >23y 0 - - OCA-2 Mild generalized hypopigmentation (HP:0007513) 1 1 Pieter Klap
00074555 25455140 OCA_24 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >60y 0 - - OCA-2 Mild generalized hypopigmentation (HP:0007513) 1 1 Pieter Klap
00074556 25455140 OCA_04 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >21y 0 - - OCA-2 Mild generalized hypopigmentation (HP:0007513) 1 1 Pieter Klap
00074567 25455140 OCA_17 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >56y 0 - - OCA-2 Mild generalized hypopigmentation (HP:0007513) 1 1 Pieter Klap
00100940 - - - - - Germany - - 0 - - OCA-2 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00132057 - - - - - Germany - - 0 - - OCA-2 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00265415 - - - F - - - - 0 - - - Global developmental delay (HP:0001263); Hypopigmentation of the skin (HP:0001010); Agenesis of corpus callosum (HP:0001274); Strabismus (HP:0000486); Red hair (HP:0002297); Focal seizures (HP:0007359) 1 1 Andreas Laner
00291163 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00291164 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 11 Mohammed Faruq
00291165 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00291166 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 36 Mohammed Faruq
00295498 - - - M - - - - 0 - - ? Ocular albinism (HP:0001107) 1 1 Andreas Laner
00300639 - - - F - Germany - - 0 - - ? Hypopigmentation of the skin (HP:0001010); Albinism (HP:0001022); White hair (HP:0011364) 1 1 Andreas Laner
00308526 - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - retinal disease - 1 2 Global Variome, with Curator vacancy
00308527 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00324431 F2:II-1 - - M no - - - - - - OCA Exotropia, Nystagmus, Anomalous head posture, grade 1 iris transillumination defects, VEP misrouting, 1 1 Mervyn Thomas
00324434 F4:II-1 - - M no - - - - - - OCA Reduced VA (0.85 logMAR), Nystagmus, anomalous head posture, grade 4 foveal hypoplasia, grade 4 transillumination defects of iris 2 1 Mervyn Thomas
Legend   How to query