Renal Tubulopathies and related disorders
Gene: CLCNKA
Two families reported, and note digenic inheritance postulated.
PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C).
PubMed: 18310267- Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.Created: 30 Jan 2020, 3:29 a.m. | Last Modified: 30 Jan 2020, 3:29 a.m.
Panel Version: 0.2
Mode of inheritance
Other
Phenotypes
Bartter syndrome, type 4b, digenic; OMIM #613090
Publications
PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C).
PubMed: 18310267- Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.
The findings indicated digenic inheritance in patients with loss of function of all 4 alleles of the CLCNKA and CLCNKB genes resulting in Bartter syndrome type 4BCreated: 9 Jan 2020, 4:45 a.m. | Last Modified: 9 Jan 2020, 4:45 a.m.
Panel Version: 0.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 4b, digenic; OMIM #613090
Publications
gene: CLCNKA was added gene: CLCNKA was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,KidGen_Tubulopathies v38.1.0 Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCNKA were set to 18310267; 15044642 Phenotypes for gene: CLCNKA were set to Bartter syndrome, type 4b, digenic; OMIM #613090