TGMI|G2P

GenCC Ref: GENCC:000112

TGMI|G2P

This page is a summary of pilot submissions provided by TGMI|G2P. Click here to be notified about GenCC updates.

G2P (Gene2Phenotype, DOI: 10.1038/s41467-019-10016-3) is an online database of gene-disease relations and system for diagnostic variant interpretation, and is a product of the Transforming Genomic Medicine Initiative (TGMI).
TGMI aims to improve the quality and efficiency of clinical reporting from genomic sequence information. It is a collaboration between researchers at the University of Edinburgh, EMBL European Bioinformatics Institute, University of Cambridge, University of Exeter, Imperial College London, University of Manchester, the Broad Institute, and the Wellcome Sanger Institute, and is funded by the Wellcome Trust. TGMI are building resources to improve the speed, accuracy, sensitivity and precision of information to support clinical genome interpretation.


Website
Personnel
Fiona Ciunningham
Email: g2p-help@ebi.ac.uk

Assertion Criteria

Submissions

1644 total number of submissions
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Weaver syndrome
Submitted as: OMIM:277590
AD
07/22/2015
Evaluated
07/01/2021
Submitted
neurooculocardiogenitourinary syndrome
Submitted as: OMIM:618652
AD
09/18/2019
Evaluated
07/01/2021
Submitted
periventricular nodular heterotopia 8
Submitted as: OMIM:618185
AD
07/16/2020
Evaluated
07/01/2021
Submitted
heterotaxy, visceral, 1, X-linked
Submitted as: OMIM:306955
XLR
07/22/2015
Evaluated
07/01/2021
Submitted
intellectual disability, autosomal dominant 13
Submitted as: OMIM:614563
AD
07/22/2015
Evaluated
07/01/2021
Submitted
AR
07/22/2015
Evaluated
07/01/2021
Submitted
pontocerebellar hypoplasia type 2A
Submitted as: OMIM:277470
AR
07/22/2015
Evaluated
07/01/2021
Submitted
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Submitted as: OMIM:616026
AD
07/22/2015
Evaluated
07/01/2021
Submitted
Fanconi anemia complementation group I
Submitted as: OMIM:609053
AR
07/22/2015
Evaluated
07/01/2021
Submitted
mitochondrial DNA depletion syndrome 9
Submitted as: OMIM:245400
AR
07/22/2015
Evaluated
07/01/2021
Submitted
mitochondrial DNA depletion syndrome, myopathic form
Submitted as: OMIM:609560
AR
07/22/2015
Evaluated
07/01/2021
Submitted
situs inversus
Submitted as: OMIM:270100
AD
07/22/2015
Evaluated
07/01/2021
Submitted
peroxisome biogenesis disorder 9B
Submitted as: OMIM:614879
AR
07/22/2015
Evaluated
07/01/2021
Submitted
diabetes mellitus, transient neonatal, 3
Submitted as: OMIM:610582
AD
07/22/2015
Evaluated
07/01/2021
Submitted
Loeys-Dietz syndrome 2
Submitted as: OMIM:610168
AD
07/22/2015
Evaluated
07/01/2021
Submitted
peroxisome biogenesis disorder 6A (Zellweger)
Submitted as: OMIM:614870
AR
07/22/2015
Evaluated
07/01/2021
Submitted
cleft palate with or without ankyloglossia, X-linked
Submitted as: OMIM:303400
XLR
07/22/2015
Evaluated
07/01/2021
Submitted
AR
07/22/2015
Evaluated
07/01/2021
Submitted
McCune-Albright syndrome
Submitted as: OMIM:174800
SM
07/22/2015
Evaluated
07/01/2021
Submitted
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Submitted as: OMIM:613680
AR
06/03/2017
Evaluated
11/25/2020
Submitted

The GenCC database is currently released under a Fort Lauderdale Agreement for the benefit of the wider biomedical community. You can freely download and search the data, and we encourage the use and publications of validity data for specific targeted sets of genes. However, we ask that you not publish global (site-wide) analyses of these data, or of large gene sets, until after the GenCC flagship paper has been published (estimated to be spring 2021). After the flagship publication, data will be available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.