Gene Symbol:
TRIP13
HGNC:12307
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5p15.33
Filters:

Female infertility due to oocyte meiotic arrest classifications

female infertility due to oocyte meiotic arrest
AR
08/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Identified homozygous and compound heterozygous missense pathogenic variants in TRIP13 responsible f... Read more

Kidney Wilms tumor classifications

kidney Wilms tumor
Submitted as: Orphanet:654
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Mosaic variegated aneuploidy syndrome classifications

mosaic variegated aneuploidy syndrome
Submitted as: Orphanet:1052
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Mosaic variegated aneuploidy syndrome 3 classifications

mosaic variegated aneuploidy syndrome 3
Submitted as: OMIM:617598
AR
02/23/2020
Evaluated
09/28/2021
Submitted
mosaic variegated aneuploidy syndrome 3
Submitted as: OMIM:617598
AR
04/09/2020
Evaluated
11/30/2023
Submitted

Oocyte maturation defect 9 classifications

oocyte maturation defect 9
Submitted as: OMIM:619011
AR
06/03/2020
Evaluated
09/28/2021
Submitted
oocyte maturation defect 9
Submitted as: OMIM:619011
AR
06/22/2023
Evaluated
11/30/2023
Submitted

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