PanelApp Australia

GenCC Ref: GENCC:000111

PanelApp Australia

This page is a summary of pilot submissions provided by PanelApp Australia. Click here to be notified about GenCC updates.

PanelApp Australia is managed by the Australian Genomics Health Alliance (Australian Genomics) and is used by Australian diagnostic laboratories, clinicians and researchers to establish and maintain consensus virtual gene panels for use in genomic analysis.


Website
Personnel
Zornitza Stark, Coordinator
Email: zornitza.stark@vcgs.org.au

Assertion Criteria

Submissions

811 total number of submissions
Filters:

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Noonan syndrome 7
Submitted as: OMIM:613706
AD
10/09/2020
Evaluated
11/09/2020
Submitted
cardiofaciocutaneous syndrome 1
Submitted as: OMIM:115150
AD
10/09/2020
Evaluated
11/09/2020
Submitted
CBL-related disorder
Submitted as: OMIM:613563
AD
10/09/2020
Evaluated
11/09/2020
Submitted
Costello syndrome
Submitted as: OMIM:218040
AD
10/09/2020
Evaluated
11/09/2020
Submitted
Noonan syndrome 3
Submitted as: OMIM:609942
AD
10/09/2020
Evaluated
11/09/2020
Submitted
cardiofaciocutaneous syndrome 2
Submitted as: OMIM:615278
AD
10/09/2020
Evaluated
11/09/2020
Submitted
Noonan syndrome 10
Submitted as: OMIM:616564
AD
10/09/2020
Evaluated
11/09/2020
Submitted
cardiofaciocutaneous syndrome 3
Submitted as: OMIM:615279
AD
10/09/2020
Evaluated
11/09/2020
Submitted
cardiofaciocutaneous syndrome 4
Submitted as: OMIM:615280
AD
10/09/2020
Evaluated
11/09/2020
Submitted
neurofibromatosis type 1
Submitted as: OMIM:162200
AD
10/09/2020
Evaluated
11/09/2020
Submitted
neurofibromatosis-Noonan syndrome
Submitted as: OMIM:601321
AD
10/09/2020
Evaluated
11/09/2020
Submitted
Noonan syndrome 6
Submitted as: OMIM:613224
AD
10/09/2020
Evaluated
11/09/2020
Submitted
LEOPARD syndrome 1
Submitted as: OMIM:151100
AD
10/09/2020
Evaluated
11/09/2020
Submitted
Noonan syndrome 5
Submitted as: OMIM:611553
AD
10/09/2020
Evaluated
11/09/2020
Submitted
Noonan syndrome 2
Submitted as: OMIM:605275
AR
10/09/2020
Evaluated
11/09/2020
Submitted
Noonan syndrome 11
Submitted as: OMIM:618499
AD
10/09/2020
Evaluated
11/09/2020
Submitted
Noonan syndrome-like disorder with loose anagen hair 2
Submitted as: OMIM:617506
AD
10/09/2020
Evaluated
11/09/2020
Submitted
Noonan syndrome 8
Submitted as: OMIM:615355
AD
10/09/2020
Evaluated
11/09/2020
Submitted
noonan syndrome 12
Submitted as: OMIM:618624
AD
10/09/2020
Evaluated
11/09/2020
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 2022). 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.