King Faisal Specialist Hospital and Research Center

GenCC Ref: GENCC:000114

King Faisal Specialist Hospital and Research Center

This page is a summary of submissions provided by King Faisal Specialist Hospital and Research Center. Click here to be notified about GenCC updates.

Developmental genetics


Website
Personnel
Fowzan S Alkuraya
Chairman, Translational Genomics
falkuraya@kfshrc.edu.sa

Assertion Criteria

Submissions

43 total number of submissions
Filters:

Loading...
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
AR
04/04/2011
Evaluated
04/04/2022
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: PAN2 was first reported in relation to Autosomal recessive form of syndromic neurodevelopmental diso... Read more
non-immune hydrops fetalis
AR
03/24/2021
Evaluated
03/24/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: THSD1 was first reported in relation to autosomal recessive form of Non-immune hydrops fetalis (Sham... Read more
AR
03/24/2021
Evaluated
03/24/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: KIF12 was first reported in relation to autosomal recessive cholestasis in 2019 (Maddirevula S, et a... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported two LOF variants in two independent families with ma... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant and a indel in a large male infer... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
XL
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported two LOF variants in two independent families with ma... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohor... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohor... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a nonsense variant (LOF) in a large male infertility... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohor... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohor... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohor... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohor... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a LOF variant in a large male infertility cohort (n=... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a LOF variant in a large male infertility cohort (n=... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohor... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohor... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohor... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohor... Read more
male infertility with azoospermia or oligozoospermia due to single gene mutation
AR
03/06/2021
Evaluated
03/06/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohor... Read more

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.