Submission Details

Submitter:

Classification:
Limited
GENCC:100004
Gene:
Disease:
late-adult onset retinitis pigmentosa
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
03/01/2020
Evidence/Notes:
A index patient was diagnosed with late-onset RP at the age of 88. WES revealed a homozygous PLA2G5 frameshift mutation.
PubMed IDs:
26306921
Public Report:
Assertion Criteria:
Submitter Submitted Date:
01/19/2021

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.