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| Prepair 1000+ v1.2084 | CLCNKB | Zornitza Stark Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 4b, digenic, 613090 (3) to Bartter syndrome, type 3 MIM#607364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2083 | CLCNKB | Zornitza Stark Marked gene: CLCNKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2083 | CLCNKB | Zornitza Stark Added comment: Comment when marking as ready: Digenic forms out of scope for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2083 | CLCNKB | Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2083 | CLCNKB | Zornitza Stark Tag for review was removed from gene: CLCNKB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.76 | CLCNKB | Lilian Downie Tag for review tag was added to gene: CLCNKB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.76 | CLCNKB | Lilian Downie Marked gene: CLCNKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.76 | CLCNKB | Lilian Downie Added comment: Comment when marking as ready: The digenic inheritance is not clearly proven, patients with variants in both genes also had biallelic variants in this gene which is just as likely to have been the cause. Not enough evidence to report in carrier screening as a digenic condition. PMID: 18310267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.76 | CLCNKB | Lilian Downie Gene: clcnkb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.76 | CLCNKB | Lilian Downie Publications for gene: CLCNKB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.65 | CLCNKB |
Lucy Spencer changed review comment from: Is the phenotype(s) severe and onset <18yo? YES. CLCNKB mutations cause Bartter syndrome type 3 also called classic Bartter syndrome with renal salt wasting, hypokalemia, metabolic alkalosis, polyuria, polydipsia, and failure to thrive. It typically manifests in early childhood but late childhood or adulthood onset cases have been reported. Classic Bartter syndrome has a heterogeneous presentation from severe to very mild (PMIDs: 25810436, 24965226) There is also a digenic inheritance known for this gene with variants in CLCNKA causing Bartter syndrome type 4b.; to: Is the phenotype(s) severe and onset <18yo? YES. CLCNKB mutations cause Bartter syndrome type 3 also called classic Bartter syndrome with renal salt wasting, hypokalemia, metabolic alkalosis, polyuria, polydipsia, and failure to thrive. It typically manifests in early childhood but late childhood or adulthood onset cases have been reported. Classic Bartter syndrome has a heterogeneous presentation from severe to very mild (PMIDs: 25810436, 24965226) There is also a digenic inheritance known for this gene with variants in CLCNKA causing Bartter syndrome type 4b. |
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| Prepair 1000+ v1.65 | CLCNKB | Lucy Spencer reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25810436, 24965226; Phenotypes: Bartter syndrome, type 3 MIM#607364, Bartter syndrome, type 4b, digenic MIM#613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | CLCNKB |
Zornitza Stark gene: CLCNKB was added gene: CLCNKB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, 613090 (3) |
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