Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
hypoparathyroidism-deafness-renal disease syndrome
Hypoparathyroidism, sensorineural deafness, and renal dysplasia
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
04/09/2025
PubMed IDs:
31885872 30534854 29073906 27387476 26800885 25510779 29025137 29026277 28566604 28303854 30396722 26316437 24434941 26268891 23052618 23186964 21242646 29593425 26514990 21834031 21120445 23203342 16509533 21157112 11389161 23291697 26777049 10935639 21399899 15830275 19253381 19952462 19248180 25771973 25124981 17309062 19723756 15705923
Public Report:
Assertion Criteria:
Submitter Submitted Date:
07/02/2025

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.