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Molecular diagnosis of albinism (2018-03-14)

Albinism is genetically heterogeneous rare genetic condition affecting 1:17000 in the Western world (but more frequent in Africa) whose main feature is a profound visual impairment, characterised by foveal hypoplasia, abnormal chiasmatic connections, nystagmus and photofobia. All these features result in severly altered visual acuity (<0,1), absent depth perception and poor night vision. People with albinism are primarily visually handicapped. In addition, for some types of albinism, the visual phenotype can be presented with partial or total hypopigmentation, hence resulting in a secondary phenotype which can lead to skin cancer if skin is not adequately protected. Recently a new syndrome has been described, FHONDA, with the same visual abnormalities of albinism but without pigment alteration. The traditional classification differentiates Oculoculatenous albinism (OCA), where hypopigmentation involves hair, skin and eyes versus Ocular Albinism (OA), where hypopigmentation only affects the eyes. These are non-sydrimic types of albinism. Some syndromic forms (Hermansky-Pudlak=HPS, Chediak-Higashi=CHS) affect cells beyond pigment cells, present in the lungs, immune system, platelets and intestines, resulting in more severe phenotypes that can be fatal. Mutations in at least 19 genes are assocaited with the corresponding types of albinism. Most hospitals will only diagnose the most frequent cases using traditional Sanger, MLPA approaches. Some will use CGH arrays. We aim to diagnose all cases of albinism through the Albinochip proposal, which combines a Sequenom first step of known mutations combined with subsequent NGS approaches. In some cases we fail to find a second mutation, these are good candidates for further full exome analyses. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see . This dataset contains all the data available for this study on 2018-03-14.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001002068 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00001595622 cram 1.5 GB
EGAF00001595623 cram 102.7 MB
EGAF00001595624 cram 1.4 GB
EGAF00001595625 cram 3.0 GB
EGAF00001595626 cram 1.6 GB
EGAF00001595627 cram 1.6 GB
EGAF00001595628 cram 1.2 GB
EGAF00001595629 cram 1.5 GB
EGAF00001595630 cram 1.5 GB
EGAF00001595631 cram 1.5 GB
EGAF00001595632 cram 1.3 GB
EGAF00001595633 cram 1.7 GB
EGAF00001595634 cram 1.4 GB
EGAF00001595635 cram 1.5 GB
EGAF00001595636 cram 2.0 GB
EGAF00001595637 cram 1.7 GB
EGAF00001595638 cram 1.2 GB
EGAF00001595639 cram 1.4 GB
EGAF00001595640 cram 1.4 GB
EGAF00001595641 cram 1.3 GB
EGAF00001595642 cram 1.4 GB
EGAF00001595643 cram 1.5 GB
EGAF00001595644 cram 1.6 GB
EGAF00001595645 cram 1.6 GB
EGAF00001595646 cram 1.4 GB
EGAF00001595647 cram 1.3 GB
EGAF00001595648 cram 1.3 GB
EGAF00001595649 cram 1.3 GB
EGAF00001595650 cram 1.1 GB
EGAF00001595651 cram 1.5 GB
EGAF00001595652 cram 1.4 GB
EGAF00001595653 cram 1.4 GB
EGAF00001595654 cram 1.7 GB
EGAF00001595655 cram 1.6 GB
EGAF00001595656 cram 1.6 GB
EGAF00001595657 cram 1.5 GB
EGAF00001595658 cram 1.5 GB
EGAF00001595659 cram 1.4 GB
EGAF00001595660 cram 1.5 GB
EGAF00001595661 cram 1.4 GB
EGAF00001595662 cram 1.7 GB
EGAF00001595663 cram 2.1 GB
EGAF00001595664 cram 1.6 GB
EGAF00001595665 cram 1.5 GB
EGAF00001595666 cram 1.6 GB
EGAF00001595667 cram 1.5 GB
EGAF00001595668 cram 1.5 GB
EGAF00001595669 cram 1.4 GB
EGAF00001595670 cram 98.3 MB
EGAF00001595671 cram 1.3 GB
EGAF00001595672 cram 2.8 GB
EGAF00001595673 cram 1.5 GB
EGAF00001595674 cram 1.5 GB
EGAF00001595675 cram 1.2 GB
EGAF00001595676 cram 1.4 GB
EGAF00001595677 cram 1.3 GB
EGAF00001595678 cram 1.4 GB
EGAF00001595679 cram 1.1 GB
EGAF00001595680 cram 1.5 GB
EGAF00001595681 cram 1.2 GB
EGAF00001595682 cram 1.3 GB
EGAF00001595683 cram 1.8 GB
EGAF00001595684 cram 1.5 GB
EGAF00001595685 cram 1.1 GB
EGAF00001595686 cram 1.3 GB
EGAF00001595687 cram 1.4 GB
EGAF00001595688 cram 1.2 GB
EGAF00001595689 cram 1.3 GB
EGAF00001595690 cram 1.4 GB
EGAF00001595691 cram 1.5 GB
EGAF00001595692 cram 1.5 GB
EGAF00001595693 cram 1.4 GB
EGAF00001595694 cram 1.2 GB
EGAF00001595695 cram 1.2 GB
EGAF00001595696 cram 1.3 GB
EGAF00001595697 cram 1.1 GB
EGAF00001595698 cram 1.4 GB
EGAF00001595699 cram 1.3 GB
EGAF00001595700 cram 1.4 GB
EGAF00001595701 cram 1.5 GB
EGAF00001595702 cram 1.5 GB
EGAF00001595703 cram 1.4 GB
EGAF00001595704 cram 1.4 GB
EGAF00001595705 cram 1.3 GB
EGAF00001595706 cram 1.3 GB
EGAF00001595707 cram 1.3 GB
EGAF00001595708 cram 1.3 GB
EGAF00001595709 cram 1.5 GB
EGAF00001595710 cram 1.8 GB
EGAF00001595711 cram 1.4 GB
EGAF00001595712 cram 1.3 GB
EGAF00001595713 cram 1.3 GB
EGAF00001595714 cram 1.3 GB
EGAF00001595715 cram 1.3 GB
EGAF00001709863 cram 1.4 GB
EGAF00001723869 cram 1.2 GB
96 Files (137.1 GB)