Ductal plate malformation
Gene: SLC12A3Heterozygous digenic SLC12A3 and CLCNKB variants have been associated with a variant of Gitelman syndrome (PMID: 26770037;30999883). However, the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.Created: 10 Aug 2023, 3:13 p.m. | Last Modified: 10 Aug 2023, 3:13 p.m.
Panel Version: 1.25
Tag monogenic - polygenic was removed from gene: SLC12A3. Tag monogenic-polygenic tag was added to gene: SLC12A3.
Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome (263800) to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Tag monogenic-polygenic was removed from gene: SLC12A3. Tag monogenic - polygenic tag was added to gene: SLC12A3.
Publications for gene: SLC12A3 were set to
Tag monogenic-polygenic tag was added to gene: SLC12A3.
Ivone Leong: Red gene on the Rare ciliopath
gene: SLC12A3 was added gene: SLC12A3 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (263800)