PanelApp Australia

GenCC Ref: GENCC:000111

PanelApp Australia

This page is a summary of 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

1043 total number of submissions
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atransferrinemia
Submitted as: OMIM:209300
AR
01/17/2025
Evaluated
12/12/2025
Submitted
mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Submitted as: OMIM:617156
AR
01/17/2025
Evaluated
12/12/2025
Submitted
patent ductus arteriosus 2
Submitted as: OMIM:617035
AD
01/17/2025
Evaluated
12/12/2025
Submitted
intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
Submitted as: OMIM:301066
XL
01/17/2025
Evaluated
12/12/2025
Submitted
hereditary motor and sensory neuropathy, Okinawa type
Submitted as: OMIM:604484
AD
01/17/2025
Evaluated
12/12/2025
Submitted
hereditary spastic paraplegia 57
Submitted as: OMIM:615658
AR
01/17/2025
Evaluated
12/12/2025
Submitted
hemochromatosis type 3
Submitted as: OMIM:604250
AR
01/17/2025
Evaluated
12/12/2025
Submitted
thyroid dyshormonogenesis 3
Submitted as: OMIM:274700
AR
01/17/2025
Evaluated
12/12/2025
Submitted
Catel-Manzke syndrome
Submitted as: OMIM:616145
AR
01/17/2025
Evaluated
12/12/2025
Submitted
Camurati-Engelmann disease
Submitted as: OMIM:131300
AD
01/17/2025
Evaluated
12/12/2025
Submitted
epithelial-stromal TGFBI dystrophy
AD
01/17/2025
Evaluated
12/12/2025
Submitted
atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Submitted as: OMIM:612926
AD
01/17/2025
Evaluated
12/12/2025
Submitted
spinocerebellar ataxia, autosomal recessive 28
Submitted as: OMIM:618800
AR
01/17/2025
Evaluated
12/12/2025
Submitted
X-linked intellectual disability-short stature-overweight syndrome
Submitted as: OMIM:300957
XL
01/17/2025
Evaluated
12/12/2025
Submitted
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Submitted as: OMIM:613680
AR
01/17/2025
Evaluated
12/12/2025
Submitted
thrombocythemia 1
Submitted as: OMIM:187950
AD
01/17/2025
Evaluated
12/12/2025
Submitted

The GenCC data are 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 accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

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.