Gene Symbol:
PQBP1
HGNC:9330
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Filters:

Hamel cerebro-palato-cardiac syndrome classifications

hamel cerebro-palato-cardiac syndrome
Submitted as: Orphanet:93946
XL
09/14/2021
Evaluated
09/14/2021
Submitted

Renpenning syndrome classifications

Renpenning syndrome
Submitted as: OMIM:309500
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
Renpenning syndrome
Submitted as: OMIM:309500
XL
09/11/2020
Evaluated
12/24/2021
Submitted
Renpenning syndrome
XL
11/09/2018
Evaluated
08/16/2021
Submitted

X-linked intellectual disability, Golabi-Ito-hall type classifications

X-linked intellectual disability, Golabi-Ito-hall type
Submitted as: Orphanet:93947
XL
09/14/2021
Evaluated
09/14/2021
Submitted

X-linked intellectual disability, Porteous type classifications

X-linked intellectual disability, Porteous type
Submitted as: Orphanet:93945
XL
09/14/2021
Evaluated
09/14/2021
Submitted

X-linked intellectual disability, Sutherland-Haan type classifications

X-linked intellectual disability, Sutherland-Haan type
Submitted as: Orphanet:93950
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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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.